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Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations

Author:
Pamela Magini  Matteo Della Monica  Maria Luisa Giovannucci Uzielli  Patrizia Mongelli  Gloria Scarselli  Eleonora Gambineri  Gioacchino Scarano and Marco Seri  


Journal:
American Journal of Medical Genetics Part A


Issue Date:
2012


Abstract(summary):

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.


Page:
917-921


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