Abstract

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.

Links

Publisher Full Text

Authors

Magini P, Della Monica M, Uzielli ML, Mongelli P, Scarselli G, Gambineri E, Scarano G, Seri M

Institution

Dipartimento di Scienze Ginecologiche, Ostetriche e Pediatriche, Università di Bologna, Policlinico Sant'Orsola Malpighi, U.O. Genetica Medica, Bologna, Italy. pamela.magini@unibo.it

Source

American journal of medical genetics. Part A 158A:4 2012 Apr pg 917-21

MeSH

Abnormalities, Multiple
Child
Codon, Nonsense
Craniosynostoses
Female
Frameshift Mutation
Humans
Infant
Intellectual Disability
Male
Phenotype
Repressor Proteins

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22419483