Bibliography

ASXL1 / BOHRING-OPITZ SYNDROME

The information we share on this website “Bohring-Opitz syndrome – A worldwide exchange of information and awareness” is based on this comprehensive list of medical publications. Literature marked with a star are recommended articles presenting cases of Bohring-Opitz Syndrome.

Nackhyoung Kim, Sukyoung Byun and Soo‐Jong Um (2024): Additional Sex Combs‐Like Family Associated with Epigenetic Regulation. Department of Integrative Bioscience and Biotechnology, Sejong University, 209 Neungdong‐ro, Gwangjin‐Gu, Seoul 05006, Republic of Korea. preprint 23 April 2024

Patel, K., McQuaid, S., Ketterl, T., Benedetti, D.J. and Sokol, E. (2024), Two cases of hepatoblastoma in Bohring–Opitz syndrome: An emerging association. Pediatr Blood Cancer e31010. https://doi.org/10.1002/pbc.31010

Russell BE et. al. : P192: Deep neurologic phenotyping and biomarker development in Bohring-Opitz syndrome using EEGs, neurodevelopmental assessments, and DNA methylation signature. Abstract| Volume 2, SUPPLEMENT 1, 101089, 2024. Open AccessDOI:https://doi.org/10.1016/j.gimo.2024.101089

Lin, I. et al.: Truncating ASXL1 mutations in Bohring-Opitz Syndrome cause epigenetically driven upregulation of Wnt signaling. Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: Oral Presentations. Eur J Hum Genet 32 (Suppl 1), 3–90 (2024). https://doi.org/10.1038/s41431-023-01480-z. C13.5 Page 38

Altaf, Mir Tariq MS, Orth1; Kandagaddala, Madhavi DNB (Radiology)2; Selina, Agnes MSc1,3; Madhuri, Vrisha MS, Orth, MCh1,3,a. Perthes-Like Disorder in a Child with Atypical Bohring-Opitz Syndrome. JBJS Case Connector 14(1):e23.00433, January-March 2024. | DOI: 10.2106/JBJS.CC.23.00433

Najmuddin, M.: A Novel ASXL1 Variant in a Case with Bohring-Opitz Syndrome. The Scholaarly Society of America: Journal of Medicine. Case Reports. Vol 2 Issue No 1. December 2023. Pdf download.

Ayoub MC, Anderson JT, Russell BE and Wilson RB (2023): Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3). Front. Neurosci. 17:1244176. doi: 10.3389/fnins.2023.1244176

Joshi U, Sabal S, Purohit L, Mirdha D. : Bohring opitz syndrome: a rare case report. International Journal of Contemporary Pediatrics. Joshi U et al. Int J Contemp Pediatr. 2023 Oct;10(10):1599-160. http://www.ijpediatrics.com. DOI: https://dx.doi.org/10.18203/2349-3291.ijcp20232893

Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters. Eur J Hum Genet 31 (Suppl 1), 345–709 (2023). https://doi.org/10.1038/s41431-023-01338-4. P05.048.A Demeer et al.: A most unusual phenotype in a patient with a mosaic ASXL1 deletion.

Lin I, Wei A, Awamleh Z, Singh M, Ning A, Herrera A, Russell BE, Weksberg R, Arboleda VA. Multi-omics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and non-canonical Wnt signaling dysregulation. JCI Insight. 2023 Apr 13:e167744. doi: 10.1172/jci.insight.167744. Epub ahead of print. PMID: 37053013. PDF download

Isabella Lin, Zain Awamleh, Angela Wei, Bianca Russell, Rosanna A Weksberg, Valerie A Arboleda: ASXL1 mutations that cause Bohring Opitz Syndrome (BOS) or acute myeloid leukemia share epigenomic and transcriptomic signatures. bioRxiv 2022.12.15.519823; doi: https://doi.org/10.1101/2022.12.15.519823. March 6, 2023

Russell, B. E., Kianmahd, R. R., Munster, C., Yu, A., Ahad, L., & Tan, W.-H. (2023). Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk. American Journal of Medical Genetics Part A, 1– 9. https://doi.org/10.1002/ajmg.a.63125. PDF download

Isabella Lin, Angela Wei, Zain Awamleh, Meghna Singh, Aileen Ning, Analeyla Herrera, Bianca Russell, Rosanna Weksberg, Valerie A. Arboleda: Multi-omics on truncating ASXL1 mutations in Bohring Opitz syndrome identify dysregulation of canonical and non-canonical Wnt signaling. bioRxiv 2022.12.15.520167; doi: https://doi.org/10.1101/2022.12.15.520167

Awamleh, Z., Chater-Diehl, E., Choufani, S. et al. DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes. Eur J Hum Genet (2022). https://doi.org/10.1038/s41431-022-01083-0

Wang, Dongbo et al. “Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby: A case report.” Medicine vol. 101,5 (2022): e28759. doi:10.1097/MD.0000000000028759

Zhao W, Hu X, Liu Y, Wang X, Chen Y, Wang Y, Zhou H. A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review. Front Pediatr. 2021 Aug 30;9:678615. doi: 10.3389/fped.2021.678615. PMID: 34527642; PMCID: PMC8435705.

Madeline Hanes; Effie Z. Rahman, MD; Robert W. Wong, MD; C. Armitage Harper III, MD: Self-Induced Bilateral Retinal Detachments and Traumatic Cataracts in a Patient With Bohring-Opitz Syndrome Published Online:July 01, 2021. https://doi.org/10.3928/23258160-20210628-08

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

Goetzinger, L., Starks, R. D., Dillahunt, K., Major, H., Nagy, J. M., & Sidhu, A. (2021). Interstitial duplication of 20q11.22q13.11: A case report and review of literature. Molecular Genetics & Genomic Medicine, 00, e1755. https://doi.org/10.1002/mgg3.1755

Choudhary R, Gauttam R, Pansari V, Kumawat A.: Variant of bohring-opitz syndrome: A rare case report. IP J Paediatr. Nurs Sci 2021;4(2):84-86. https://doi.org/10.18231/j.ijpns.2021.017

Jianbo Zhao, Yanqi Hou, Fang Fang, Changhong Ding, Xinying Yang, Jiuwei Li, Di Cui, Zhenhua Cao, Hao Zhang,: Novel truncating mutations in ASXL1 identified in two boys with Bohring-Opitz syndrome, European Journal of Medical Genetics, Volume 64, Issue 3, 2021, 104155, ISSN 1769-7212, https://doi.org/10.1016/j.ejmg.2021.104155.

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. https://doi.org/10.1002/ajmg.a.62156

Lee J, Park JE, Lee C, Kim AR, Kim BJ, Park W-Y, Ki C-S and Lee J (2021) Genomic Analysis of Korean Patient With Microcephaly. Front. Genet. 11:543528. doi: 10.3389/fgene.2020.543528

Kolovos P, Nishimura K, Sankar A, Sidoli S, Cloos PA, Helin K, Christensen J. PR-DUB maintains the expression of critical genes through FOXK1/2- and ASXL1/2/3-dependent recruitment to chromatin and H2AK119ub1 deubiquitination. Genome Res. 2020 Aug;30(8):1119-1130. doi: 10.1101/gr.261016.120. Epub 2020 Aug 3. PMID: 32747411; PMCID: PMC7462075.

Hallgrímsson, B., Aponte, J.D., Katz, D.C. et al. Automated syndrome diagnosis by three-dimensional facial imaging. Genet Med 22, 1682–1693 (2020). https://doi.org/10.1038/s41436-020-0845-y

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). https://doi.org/10.1007/s12041-019-1155-5

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, https://doi.org/10.1093/arclin/acz034.224

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: http://www.jfmpc.com/text.asp?2019/8/3/1279/254923

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). https://doi.org/10.1007/s00439-019-01985-y

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. https://edoc.ub.uni-muenchen.de/22829/1/Matheus_Friederike.pdf

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. https://doi.org/10.1002/ccr3.1603

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. https://doi.org/10.1002/ajmg.a.38681

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. https://doi.org/10.1002/ajmg.a.38686

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: https://www.ncbi.nlm.nih.gov/books/NBK481833/

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” http://www.genedx.com

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. Kinderneurologie.eu 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. DOI: 10.1158/1078-0432.CCR-17-0710 Published July 2017

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. rarechromo.org

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. https://doi.org/10.1002/humu.23203

Acuna-Hidalgo R, Veltman JA, Hoischen A. New insights into the generation and role of de novo mutations in health and disease. Genome Biol. 2016;17(1):241. Published 2016 Nov 28. doi:10.1186/s13059-016-1110-1

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), http://dx.doi.org/10.1016/j.stemcr.2016.04.013

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 disorders. Eur 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: http://indigo.uic.edu/handle/10027/19018)

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: http://www.ijpmonline.org/text.asp?2012/55/2/242/97894

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

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.

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

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

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)

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.

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.

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, 2000

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

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 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.

OPITZ TRIGONOCEPHALY C SYNDROME

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: Similari ties 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

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