How to Cite this Article: Magini P, Monica MD, Uzielli MLG, Mongelli P, Scarselli G, Gambineri E, Scarano G, Seri M. 2012. Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations. Am J Med Genet Part A 158A:917–921.
Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations†
Version of Record online: 14 MAR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 4, pages 917–921, April 2012
How to Cite
Magini, P., Monica, M. D., Uzielli, M. L. G., Mongelli, P., Scarselli, G., Gambineri, E., Scarano, G. and Seri, M. (2012), Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations. Am. J. Med. Genet., 158A: 917–921. doi: 10.1002/ajmg.a.35265
- Issue online: 23 MAR 2012
- Version of Record online: 14 MAR 2012
- Manuscript Accepted: 19 JAN 2012
- Manuscript Received: 27 SEP 2011
- Italian Ministry of Health, Strategic Program RFPS-4-631972 “Genetic Basis of Birth Defects”
- Bohring–Opitz syndrome;
- ASXL1 gene;
- genotype–phenotype correlations
Bohring–Opitz syndrome (BOS) is a rare condition characterized by facial anomalies, multiple malformations, failure to thrive and severe intellectual disabilities. Recently, the cause was identified on the basis of de novo heterozygous mutations in the ASXL1 gene. We report on two novel cases carrying two previously undescribed mutations (c.2407_2411del5 [p.Q803TfsX17] and c.2893C>T [p.R965X]). These new data further support ASXL1 as cause of BOS and may contribute to a more precise definition of the phenotype caused by the disruption of this gene. © 2012 Wiley Periodicals, Inc.