The ASXL Rare Research Endowment (AЯRE) Foundation will provide sustainable support for evidence-based research that will increase our understanding of the ASXL genes and improve the treatment of individuals with congenital ASXL mutations. Our ASXL families — who have Bohring-Opitz Syndrome (ASXL1), Bainbridge-Ropers Syndrome (ASXL3) and Shashi-Pena Syndrome (ASXL2) – face extraordinary challenges and uncertainty. AЯRE will bring together the medical and scientific leaders to study ASXL genes and clinical challenges so that we can improve care management strategies, assist with patient advocacy, and ultimately introduce potential treatments/cure.
Facebook group Bohring-Opitz Syndrome in Italie: Bohring-Opitz Italy/Mariateresa
Facebook page Bohring-Opitz Syndrome in France: Syndrome de Bohring-Opitz France
Bohring-Opitz Syndrome Foundation – The Bohring-Opitz Syndrome (BOS) Foundation holds several fundraisers each year to facilitate birthday/sympathy gifts to individuals with Bohring-Opitz Syndrome who have joined their Birthday club. The Foundation also sends welcome baskets to patients who are newly diagnosed with Bohring-Opitz Syndrome. Furthermore, the foundation organizes an annual meet up event in the United States and attends summits and conferences to help promote medical awareness.
OMIM®, Online Mendelian Inheritance in Man®, An Online Catalog of Human Genes and Genetic Disorders: Bohring-Opitz-Syndrome
JH Schieving: Het Bohring-Opitz Syndroom. Nederlandstalig. Kinderneurologie.eu July 2017 – Een uitgebreide maar toch beknopte overzicht over het Bohring-Opitz Syndroom in begrijpelijke taal.
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
The Simons VIP team is studying both copy number variants (CNVs) and changes in one gene (including the ASXL3 gene which mutated cause Bainbridge-Ropers Syndrome) that have been associated with features of autism spectrum disorder (ASD) and developmental delay.
William Reardon: The Bedside Dysmorphologist – classical clinical signs in human malformation disorders and their diagnostic significance. Oxford University Press, 2007
Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who notices, for example, that the ears may be rather low set. While in itself minor, this physical sign may indicate a malformation that will be accompanied by other serious genetic disorders. Does the sign, or does it not, indicate an underlying syndrome? That question is often quite difficult to answer, and the texts that may aid in diagnosis are highly sophisticated and rather daunting for the practicing pediatrician. The aim of Reardons new text is to provide a practical solution to this situation. In a format using a high-quality color illustration of the most common and most elusive signs on the left-hand page and clear, concise text descriptions on the right, Reardon will create a unique and helpful guide to identifying these malformations and determining their clinical significance. Willie Reardon, a veteran OUP author and eminent dysmorphologist, is well-suited to write such a book, which will appeal to a wide audience of pediatricians, geneticists, genetic counselors, and embryologists.
“Unusually for a book on dysmorphology, this compact tome can accompany the interested clinician on ward rounds without intruding on the bedside manner, yet is packed full of interesting and helpful information, as well as a wealth of illustrations (on every facing page), without which it is impossible to be a student of the subject…Reardon is one of a rare breed of clinician–a truly accomplished dysmorphologist–and I have been enlightened, from learning the meaning of ‘poliosis’ to being alerted to rare syndromes that are usually beyond the reach of my personal radar. There is something in this book for dysmorphologists at all levels of interest and experience.”–Peter Turnpenny, Royal Devon and Exeter Hospital, for British Journal of Hospital Medicine