Medical Publications


Barry, Damian; MacSweeney, Kevin; Barry, Gordian; O’Brien, Brian: Anaesthesia and orphan diseases – Bohring–Opitz syndrome, European Journal of Anaesthesiology: July 2021 – Volume 38 – Issue 7 – p 788-790. doi: 10.1097/EJA.0000000000001317

Vishnu Anand Cuddapah, Holly A. Dubbs, Laura Adang et al.: Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature. First published: 10 March 2021.

Hallgrímsson, B., Aponte, J.D., Katz, D.C. et al. Automated syndrome diagnosis by three-dimensional facial imaging. Genet Med 22, 1682–1693 (2020).

Mersedeh Rohanizadegan, Aishwarya Siddharth, Kyle Retterer, et al. The tale of two genes-from next generation sequencing to phenotype Cold Spring Harb Mol Case Stud published online January 22, 2020. Access the most recent version at doi:10.1101/mcs.a004846

Leon E, Diaz J, Castilla-Vallmanya L, Grinberg D, Balcells S, Urreizti R. Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies [published online ahead of print, 2019 Nov 6]. Am J Med Genet A. 2019;10.1002/ajmg.a.61397. doi:10.1002/ajmg.a.61397

Daniela Alejandra Tolosa Quintero, Carolina Rivera Nieto: Bohring-Opitz Syndrome: First Latinoamerican Case and
Review of the Literature. Global Journal of Medical Research
: F Diseases. Volume 19 Issue 2 Version 1.0 Year 2019
Type: Double Blind Peer Reviewed International Research Journal. Publisher: Global Journals. Online ISSN: 2249-4618 & Print ISSN: 0975-5888

Efthymiou, S., Salpietro, V., Pironti, E. et al. A de novo truncating mutation in ASXL1 associated with segmental overgrowth. J Genet 98, 108 (2019).

B Herd, J Chiang, M Patterson, V Regueiro, C-62 The Physiological Effects of Infant Massage Techniques in a 17-month-old Patient with Bohring-Opitz Syndrome, Archives of Clinical Neuropsychology, Volume 34, Issue 6, August 2019, Page 1091,

Verma B, Abhinay A, Singh A, Kumar M. Double outlet right ventricle and aortopulmonary window in a neonate with Bohring-Opitz (Oberklaid-Danks) syndrome: First case report. J Family Med Prim Care [serial online] 2019 [cited 2019 Mar 28];8:1279-81. Available from:

Negri, G., Magini, P., Milani, D. et al.: Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders. Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders. Hum Genet (2019).

Moon et al.: Asxl1 exerts an antiproliferative effect on mouse lung maturation via epigenetic repression of the E2f1-Nmyc axis. Cell Death and Disease (2018) 9:1118 DOI 10.1038/s41419-018-1171-z

Matheus, Friederike: The role of Additional sex combs – like genes in human pluripotent stem cell differentiation and congenital disorders. Dissertation – Aus dem Physiologischen Institut, Lehrstuhl: Physiologische Genomik im Biomedizinischen  Zentrum (BMC) der Ludwig-Maximilians-Universität München.  22 August 2018.

Shinde R, Phadke V, Kanhere S, Sawkar D, Shukla R. Bohring Opitz Syndrome: A case of a rare genetic disorder. Indian J Case Reports. 2018; June 11 [Epub ahead of print].

Urreizti R, Gürsoy S, Castilla‐Vallmanya L, et al. The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome. Clin Case Rep. 2018;00:1–5.

Kibe M, Ibara S, Inagaki H, Kato T, Kurahashi H, Ikeda T. Lethal persistent pulmonary hypertension of the newborn in Bohring–Opitz syndrome. Am J Med Genet Part A. 2018;176A:1245–1248.


  Bedoukian E, Copenheaver D, Bale S, Deardorff M. Bohring‐Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother. Am J Med Genet Part A. 2018;176A:1249–1252.


  Russell B, Tan WH, Graham JM Jr. Bohring-Opitz Syndrome. 2018 Feb 15. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from:

Bruel A, Bigoni S, Kennedy J, et al: Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Journal of Medical Genetics Published Online First: 26 October 2017. doi: 10.1136/jmedgenet-2017-104748


  Deborah Copenheaver; Emma Bedoukian; Matthew Deardorff; Sherri Bale: “Bohring-Opitz Syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother”


Nithiya Visayaragawan, Narentharen Selvarajah, Hema Apparau, Valuyeetham Kamaru Ambu: Bohring-Opitz Syndrome – a case of rare genetic disorder. Case Report. Tuanku Ja’afar Hospital, Seremban. Med J Malaysia Vol 72 No 4 August 2017. PubMed

JH Schieving: Het Bohring-Opitz Syndroom. Nederlandstalig. July 2017

Jennifer M. Kalish, Leslie Doros, Lee J. Helman, Raoul C. Hennekam, Roland P. Kuper, Saskia M. Maas, Eamonn R. Maher, Kim E. Nichols, Sharon e. Plon, Christopher C. Porter, Surya Rednam, Kris Ann P. Schultz, Lisa J. States, Gail e. Tomlinson, Kristin Zelley and Todd E. Druley: Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma.

Unique (Understanding Chromosome Disorders) : Bohring-Opitz Syndrome. Leaflet by Dr Joanna Kennedy, Academic Paediatric Trainee, Severn Deanery and reviewed by Professor Ruth Newbury – Ecob, MB ChB, MD, FRCP, FRCPCH, Consultant Clinical Geneticist, Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust. Unique 2017.

Maja Tarailo-Graovac, Jing Yun Alice Zhu, Allison Matthews, Clara D M van Karnebeek, Wyeth W Wasserman: Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders. GENETICS in MEDICINE (2017) doi:10.1038/gim.2017.50

B. Russell, et al.: Bohring-Opitz Syndrome Patient Support Group an Essential Element for Optimizing Facial Dysmorphism Recognition Software Tool. March 21, 2017. By FDNA Team.

Carlston CM, O’Donnell‐Luria AH, Underhill HR, et al. Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring‐Opitz Syndrome. Human Mutation. 2017;38:517–523.

Gonzalez de Alba CE, Berganza FM, Sawhney R and Ojadi V: An Uncommon Presentation of Bohring-Opitz Syndrome in a 2 Week-Old Newborn Female. Austin Pediatr. 2016; 3(3): 1035.

Zhang et al.: Loss of Asxl1 Alters Self-Renewal and Cell Fate of Bone Marrow Stromal Cell, Leading to Bohring-Opitz-like Syndrome in Mice, Stem Cell Reports (2016),

Arunachal, Gautham; Danda, Sumita; Omprakash, Sabita; Kumar, Sathish 2016: A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome. Clinical Dysmorphology: April 7, 2016 – Volume Publish Ahead of Print – Issue – ppg

Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D. 2015. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring–Opitz syndromes. Am J Med Genet Part A 9999A:1–8.

Seungtae Moon, Soo-Jong Um, Eun-Joo Kim 2015: Role of Asxl1 in kidney podocyte development via its interaction with Wtip. BBRC Biochemical and Biophysical Research Communications

Dangiolo SB, Wilson A, Jobanputra V, Anyane-Yeboa K. 2015. Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. Am J Med Genet Part A 9999A:1–6. Full text.

American Journal of Medical Genetics Part A, AJMG Sequence, In this Issue: Wilms Tumor Screening recommended for some patients with Bohring-Opitz Syndrome. (2015), In this issue. Am. J. Med. Genet., 167: x. doi: 10.1002/ajmg.a.37285

Russell B, Johnston JJ, Biesecker LG, Kramer N, Pickart A, Rhead W, Tan W-H, Brownstein CA, Kate Clarkson L, Dobson A, Rosenberg AZ, Schrier Vergano SA, Helm BM, Harrison RE, GrahamJr. JM. 2015. Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance. Am J Med Genet Part A 9999A:1–10. Author manuscript.

A. Ziegler, E. Schuler, G. Hoffmann: Bohring-Opitz Syndrome: Mutation in the ASXL1 Gene as a Rare Cause of Mental Retardation with Failure to Thrive and Characteristic Phenotype. Neuropediatrics 2015; 46 – PS01-17, DOI: 10.1055/s-0035-1550684

ZHU, Xiaolin, et al. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Genetics in Medicine, 2015.

Katoh, M.: Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicine. Expert Review of Proteomics. Vol. 12, Iss. 3, 2015

Ropers HH, Wienker T: Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disordersEur J Med Genet. 2015 Dec;58(12):715-8. doi: 10.1016/j.ejmg.2015.10.007. Epub 2015 Oct 24.

B. Russell, N. Kramer, L. Biesecker, J. Johnston, W. Rhead, A. Pickard, A. Dobson, L. Clarkson, J. Graham. Natural history and clinical management of patients with ASXL1 mutations and Bohring-Opitz Syndrome, including the first report of Wilms Tumor in two patients . 64th Annual Meeting of The American Society of Human Genetics, San Diego Convention Center, San Diego, CA. October 2014.

Yousef Assaleh (2014): Bohring-Opitz syndrome in Libya. Department of pediatric neurology, Ali Omar Askar, Zawia Teaching Hospital and National Medical Research Center, Zawia, Libya. Vol. 8, No. 1, 2014

McGinley, A. L., Li, Y., Deliu, Z. and Wang, Q. T. (2014), Additional sex combs-like family genes are required for normal cardiovascular development. Genesis, 52: 671–686. doi: 10.1002/dvg.22793

McGinley, A. (2014). Additional Sex Combs-Like Family Genes Regulate Embryonic Development.  UNIVERSITY OF ILLINOIS AT CHICAGO, 2014, 184 pages; 3668609 (Full article:

Wang J, Li Z, He Y, Pan F, Chen S, Rhodes S, Nguyen L, Yuan J, Jiang L, Yang X, Weeks O, Liu Z, Zhou J, Ni H, Cai CL, Xu M, Yang FC. Loss of Asxl1 leads to myelodysplastic syndrome-like disease in mice. Blood. 2014;123:541–553. [PMC free article] [PubMed]

Abdel-Wahab et al: Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo, Published November 11, 2013 // JEM vol. 210 no. 12 2641-2659

Russel, Bianca; Graham Jr., John M.: Expanding our knowledge of conditions associated with the ASXL gene family. Russel and Graham Genome Medicine 2013, 5:16.

Bohring, A. et al.: Molecular analysis of patients with Bohring-Opitz syndrome. European Journal of Human Genetics. Vol. 20. June 2012. Article P02.043. European Human Genetics Conference 2012 Nürnberg, Germany

Giovannucci Uzielli, M. et al.: Clinical Spectrum and Natural History of Bohring-Opitz (BOPS) (BOS) syndrome, in the three first Italian Patients. European Journal of Human Genetics. Vol. 20. June 2012. Article. P02.044. European Human Genetics Conference 2012 Nürnberg, Germany

Magini, P., Della Monica, M., Uzielli, M. L. G., Mongelli, P., Scarselli, G., Gambineri, E., Scarano, G., Seri, M.: Two Novel Patients With Bohring–Opitz Syndrome caused by de novo ASXL1 mutations, Am. J. Med. Genet. 158A: 917-921, 2012.

Marzban S, Geramizadeh B. Lipofibromatosis accompanied by several congenital anomalies, report of a rare case. Indian J Pathol Microbiol [serial online] 2012 [cited 2015 Nov 1];55:242-4. Available from:

Bassett JHD, Gogakos A, White JK, Evans H, Jacques RM, et al. (2012): Rapid-Throughput Skeletal Phenotyping of 100 Knockout Mice Identifies 9 New Genes That Determine Bone Strength. PLoS Genet 8(8): e1002858. doi:10.1371/journal.pgen.1002858

A.E. Aldea Romero, A. López Dueñas, M.E. Rubio Jiménez, M.J. Hernández Bejarano, A. García García, M.L. Martínez-Fernández, E. Bermejo-Sánchez, M.L. Martínez-Frías: Descripción de un nuevo caso de síndrome de Bohring-Opitz (o de Oberklaid-Danks), BOLETÍNdelECEMC Serie VI | N.º 1 | 2011, Revista de Dismorfología y Epidemiología

Hoischen, A., van Bon, B. W. M., Rodriguez-Santiago, B., Gilissen, C.,Vissers, L. E. L. M., de Vries, P., Janssen, I., van Lier, B., Hastings, R., Smithson, S. F., Newbury-Ecob, R., Kjaergaard, S., and 11 others: De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome, Nature Genet. 43: 729-731, 2011.

Raam, M. S.; Muenke, M.: Uncommon craniosynostosis syndromes: a review of thirteen conditions. 2011. Karger, 2011, vol 19, pp 119–142

Gilissen, C., Hoischen, A., Brunner, H. G., & Veltman, J. A. (2012). Disease gene identification strategies for exome sequencing. European Journal of Human Genetics, 20(5), 490-497.

Hastings, Rob; Cobben, Jan-Maarten; Gillessen-Kaesbach, Gabriele; Goodship, Judith; Hove, Hanne; Kjaergaard, Susanne; Kemp, Helena; Kingston, Helen; Lunt, Peter; Mansour, Sahar; McGowan,Ruth; Metcalfe, Kay; Murdoch-Davis, Catherine; Ray,Mary; Rio,Marle`ne; Smithson, Sarah; Tolmie, John; Turnpenny, Peter; van Bon, Bregje; Wieczorek, Dagmar; Newbury-Ecob, Ruth: Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis. European Journal of Human Genetics (2011). Full Text: PCM

Hasting, Rob; Newbury-Ecob, Ruth; Lunt, Peter: A case of probable Bohring-Opitz syndrome with medulloblastoma; Clinical Dysmorphology 2010, 19:202-205, Department of clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK

Pierron, S., Richelme, C., Triolo, V., Mas, J. C., Griffet, J., Karmous-Benailly, H., Quere, M., Kaname, T., Lambert, J.-C., Giuliano, F.: Evolution of a patient with Bohring-Opitz syndrome, Am. J. Med. Genet. 149A: 1754-1757, 2009. [PubMed: 19606480, relatedcitations] [Full Text: John Wiley & Sons, Inc.]

F. B. Piazzon, M. F. F. Soares, V. F. A. Meloni: Bohring-Opitz Syndrome or C Syndrome spectrum? Report of a Brazilian case. The American Society of Human Genetics (ASHG), Meeting 2008

Lotz, Gösta MD; Schalk, Richard RN; Byhahn, Christian MD: Laryngeal Tube S-II to Facilitate Fiberoptic Endotracheal Intubation in an Infant with Boring-Opitz Syndrome. in: Anesthesia & Analgesia: November 2007 – Volume 105 – Issue 5 – pp 1516-1517doi: 10.1213/01.ane.0000287016.13697.77 Letters to the Editor: Letters & Announcements

Andrew R.H. Simpson, Caspar E.A. Gibbon, Anthony G. Quinn, Peter D. Turnpenny: Infantile high myopia in Bohring-Opitz syndrome,  Journal of American Association for Pediatric Ophthalmology and Strabismus, Volume 11, Issue 5, October 2007, Pages 524–525

Bisgaard, A.M. et al. 2007: Transmitted cytogenetic abnormalities in patients with mental retardation: Pathogenic or normal variants? Eur J Med Genet. 2007 Jul-Aug;50(4):243-55. Epub 2007 Apr 14.

Osaki, M., Makita, Y., Miura, J., Abe, N., Noguchi, S., Miyamoto, A.: A Japanese Boy With Apparent Bohring-Opitz or “C-like” Syndrome, (Letter) Am. J. Med. Genet. 140A: 897-899, 2006.

 Bohring, A., Oudesluijs, G. G., Grange, D. K., Zampino, G., Thierry, P.: New cases of Bohring-Opitz syndrome, update, and critical review of the literature. Am. J. Med. Genet. 140A: 1257-1263, 2006. [PubMed: 16691589, related citations] [Full Text: John Wiley & Sons, Inc.]

Greenhalgh, K. L., Newbury-Ecob, R. A., Lunt, P. W., Dolling, C. L., Hargreaves, H., Smithson, S. F.: Siblings with Bohring-Opitz syndrome.Clin.Dysmorph. 12: 15-19, 2003. [PubMed: 12514360, related citations] [Full Text: Lippincott Williams & Wilkins]

Brunner, H. G., van Tintelen, J. P., de Boer, R. J.: Bohring syndrome (Letter) Am. J. Med. Genet. 92: 366-368, 200

Nakane, T., Kubota, T., Fukushima, Y., Hata, Y., Ishii, J., Komiyama, A.: Opitz Trigonocephaly (C)-Like Syndrome, or Bohring-Opitz syndrome: another example. (Letter) Am. J. Med. Genet. 92: 361-362, 2000

Addor MC, Stefanutti D, Farron F, Meinecke P, Lacombe D, Sarlangue J, Prescia G, Schorderet DF. 1995. C Trigonocephaly syndrome with diaphragmatic hernia. Genet Counsel 6:113–120.

Oberklaid F, Danks D. 1975. The Opitz trigonocephaly syndrome. AmJ Dis Child 129:1348–1349.


Roser Urreizti, Daniel Grinberg & Susanna Balcells (2019): C syndrome – what do we know and what could the future hold? Expert Opinion on Orphan Drugs, DOI: 10.1080/21678707.2019.1589448 Urreizti, R. et al. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. Sci. Rep. 7, 44138; doi: 10.1038/srep44138 (2017)

Peña-Padilla, C., Marshall, Christian. R., Walker, S., Scherer, S. W., Tavares-Macías, G., Razo-Jiménez, G., Bobadilla-Morales, L., Acosta-Fernández, E., Corona-Rivera, A., Mendoza-Londono, R. and Corona-Rivera, J. R. (2016), Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. Clin Genet. Accepted Author Manuscript. doi:10.1111/cge.12924

Rabah M. Shawky, , Radwa Gamal: C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child. Case Report. Pediatric Department, Genetics Unit, Ain Shams University, Egypt. Received 8 January 2016, Accepted 25 January 2016, Available online 18 February 2016

Travan, Laura;  Pecile, Vanna;  Fert, Mariacristina; Fabretto, Antonella;  Brovedani, Pierpaolo; Demarini, Sergio  and Opitz, John M: Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report. Case report. Journal of Medical Case Reports 2011, 5:222

Shawky,RM;  Sadik, DI: C syndrome in an Egyptian infant with dilated brain ventricles and heteroto piaEgyptian Journal of Medical Human Genetics  2008 (source: 8-7-2015)

Kaname, T., Yanagi, K., Chinen, Y., Makita, Y., Okamoto, N., Maehara, H., Owan, I., Kanaya, F., Kubota, Y., Oike, Y., Yamamoto, T., Kurosawa, K., Fukushima, Y., Bohring, A., Opitz, J. M., Yoshiura, K., Niikawa, N., Naritomi, K.: Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome, Am. J. Hum. Genet. 81: 835-841, 2007 (Full text)

Chinen et al.: Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1). Am J Med Genet A. 2006 Aug 1;140(15):1655-7.

Yatsenko S, Cheung S, Scott D, et al.: Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. Journal of Medical Genetics. 2005;42(4):328-335. doi:10.1136/jmg.2004.028258.

Lindor, N. M., Ramin, K. D., Kleinberg, F. and Bite, U. (2000), Letter to the Editor: Severe end of Opitz trigonocephaly C syndrome. Am. J. Med. Genet., 92: 363–365. doi: 10.1002/1096-8628(20000619)92:53.0.CO;2-5

Bohring, A., Silengo, M., Lerone, M., Superneau, D. W., Spaich, C., Braddock, S. R., Poss, A., Opitz, J. M.: Severe End of Opitz Trigonocephaly (C) Syndrome or new syndrome?  Am. J. Med. Genet. 85: 438-446, 1999

Addor, M.-C., Stefanutti, D., Farron, F., Meinecke, P., Lacombe, D., Sarlangue, J., Prescia, G., Schorderet, D. F.: C trigonocephaly syndrome with diaphragmatic hernia. Genet. Counsel. 6: 113-120, 1995. [PubMed: 7546453, related citations]

Oberklaid, F., Danks, D. M.: The Opitz trigonocephaly syndrome: a case report. Am. J. Dis. Child. 129: 1348-1349, 1975. [PubMed: 1190170, related citations] [Full Text: HighWire Press]


Shashi, VandanaBacino, A. et al.: De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. The American Journal of Human Genetics DOI: Full Text

Melissa B Ramocki, James Dowling, Inessa Grinberg: Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. European Journal of Human Genetics (2003) 11, 527–534. doi:10.1038/sj.ejhg.5200995


Contreras-Capetillo SN, Abreu-González M. From Next Generation Sequence to the Phenotype: Exploring the Bainbridge-Ropers Syndrome with Loss of Function Variants in ASXL3. J Rare Dis Res Treat. (2019) 4(1): 52-65

Myers K.A. et al.: Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. Epilepsy Res. 2018 Feb;140:166-170. doi: 10.1016/j.eplepsyres.2018.01.014 Epub 2018 Feb 3

Bacrot S, Mechler C, Talhi N, et al. Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. Birth Defects Research. 2018;00:1–5.

Dinesh Giri, Daniel Rigden, Mohammed Didi, Matthew Peak, Paul McNamara and Senthil Senniappan: Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency. International Journal of Pediatric Endocrinology 2017 2017:8. © The Author(s). 2017. Received: 8 May 2017. Accepted: 27 July 2017. Published: 4 August 2017

S.N. Contreras-Capetillo, Z.H. Vilchis-Zapata, J. Ribbón-Conde, D. Pinto-Escalante: Retraso global del desarrollo y microcefalia posnatal: síndrome de Bainbridge-Ropers con una nueva variante de novo en ASXL3 (Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3)

M Balasubramanian, J Willoughby, A E Fry, A Weber, H V Firth, C Deshpande, J N Berg, K Chandler, K A Metcalfe, W Lam, D Pilz, S Tomkins, DDD Study: Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. J Med Genet jmedgenet-2016-104360Published Online First: 18 January 2017 doi:10.1136/jmedgenet-2016-104360 [Abstract] [Full text] [PDF]

Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke and Dagmar Wieczorek: Bainbridge–Ropers syndrome caused by loss-offunction variants in ASXL3: a recognizable condition. European Journal of Human Genetics 25, 183-191 (February 2017) | doi:10.1038/ejhg.2016.165

S. Walker; R.K.C. Yuen; B. Thiruvahindrapuram; T. Woo; M. Woodbury-Smith; R. Dad; P. Szatmari; B.A. Minassian; S.W. Scherer: Phenotypic variability of de novo mutations in ASXL3PgmNr 1361/T ASHG 2016 Annual Meeting Poster Abstracts

Anshika Srivastava, K.C. Ritesh, Yao-Chang Tsan, Rosy Liao, Fengyun Su, Xuhong Cao, Mark C. Hannibal, Catherine E. Keegan, Arul M. Chinnaiyan, Donna M. Martin and Stephanie L. Bielas: De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome. Hum. Mol. Genet. (2016) 25 (3):597-608.doi: 10.1093/hmg/ddv499

Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M,Kanemura Y, Kosaki K, Saitoh S. 2016. Novel splicing mutation in the ASXL3 gene causing Bainbridge–Ropers syndrome. Am J Med Genet Part A 9999A:15.

Beck-Woedl, Tzschach, Junker, Riess, Bevot, KraegelohMann, Bauer, Grasshoff: Next-generation sequencing detects an ASXL3 stop mutation (Bainbridge-Ropers syndrome) in a patient with intellectual disability but untypical symptoms. Medizinische Genetik 1 · 2014, 129-13-, P-ClinG-064

Dr Hilary Glover: Mutations in ASXL3 cause problems similar to Bohring-Opitz syndrome. BioMed Central05 Feb 2013

Dinwiddie et al.: De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. 2013 Dinwiddie et al.; BioMed Central Ltd.

Bainbridge, Matthew N.; Hu, Hao; Muzny, Donna M.; Musante, Luciana; Lupski, James R.; Graham, Brett H.; Chen, Wei; Gripp, Karen W.; Jenny, Kim; Wienker, Thomas F.; Yang, Yaping V.; Sutton, Reid; Gibbs, Richard A.; Ropers, H. Hilger: De novo, truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Medicine 2013


Hiroaki Hanafusa, Naoya Morisada, Yusuke Ishida, Ryosuke Sakata, Keiichi Morita, Shizu Miura, Ming Juan Ye, Toshiyuki Yamamoto, Nobuhiko Okamoto, Kandai Nozu & Kazumoto Iijima: The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features Human Genome Variation 4, Article number: 17050 (2017) doi:10.1038/hgv.2017.50

Jedraszak G, Demeer B, Mathieu-Dramard M, Andrieux J, Receveur A, Weber A, Maye U, Foulds N,Temple I, Crolla J, Alex-Cordier M-P, Sanlaville D, Ewans L, Wilson M, Armstrong R, Clarkson A,Copin H, Morin G. 2015. Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients. Am J Med Genet Part A. 167A:504511.

Renata Posmyk, Ryszard Leśniewicz, Magdalena Gogiel, Monika Chorąży, Alina Bakunowicz-Łazarczyk, Danuta Sielicka, Joris Vermeesch, Beata Anna Nowakowska: The smallest de novo deletion of 20q11.21–q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities. First published: 23 January 2014, AJMG Volume 164, Issue 4, April 2014, Pages 1056–106

Avila M, Kirchhoff M, Marle N, Hove HD, Chouchane M, Thauvin-Robinet C, Masurel A, Mosca-Boidron AL, Callier P, Mugneret F, Kjaergaard S, Faivre L.: Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene, Am J Med Genet A. 2013 Jul;161A(7): -8. doi: 10.1002/ajmg.a.35970. Epub 2013 May 22

Iourov, Ivan Y. ; Vorsanova, Svetlana G. ; Kurinnaia, Oxana S. ; Yurov, Yuri B.: Case Report An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms . Hindawi Publishing Corporation, Case Reports in Genetics, Volume 2013, Article ID 353028, 5 pages


Vipulananthan, Nirupan, et al. “Primary aerodigestive presentations of Pierre Robin sequence/complex and predictive factors of airway type and management.” International journal of pediatric otorhinolaryngology 78.10 (2014): 1726-1730.

Ruth SoRelle, M.P.H.: Whole exome sequencing answers families’ questions, Bayor College of Medicine, Volume 12, Issue 2 March 2013


  Recommended articles presenting cases of Bohring-Opitz Syndrome.