You can manage bookmarks using lists, please log in to your user account for this.
Media type:
E-Article
Title:
Skewed X‐inactivation in a family with DLG3‐associated X‐linked intellectual disability
Contributor:
Gieldon, Laura;
Mackenroth, Luisa;
Betcheva‐Krajcir, Elitza;
Rump, Andreas;
Beck‐Wödl, Stefanie;
Schallner, Jens;
Di Donato, Nataliya;
Schröck, Evelin;
Tzschach, Andreas
imprint:
Wiley, 2017
Published in:American Journal of Medical Genetics Part A
Language:
English
DOI:
10.1002/ajmg.a.38348
ISSN:
1552-4825;
1552-4833
Origination:
Footnote:
Description:
<jats:sec><jats:label /><jats:p>Mutations in <jats:italic>DLG3</jats:italic> are a rare cause of non‐syndromic X‐linked intellectual disability (XLID) (MRX90, OMIM *300189). Only ten <jats:italic>DLG3</jats:italic> mutations have been reported to date. The majority of female heterozygous mutation carriers was healthy and had random X‐inactivation patterns. We report on an XLID family with a novel <jats:italic>DLG3</jats:italic> mutation. The 12‐year‐old male index patient had moderate intellectual disability (ID) and dysmorphic features. The mutation was also present in four female relatives. A maternal aunt had moderate ID and significantly skewed X‐inactivation favorably inactivating the normal <jats:italic>DLG3</jats:italic> allele. The proband's healthy mother also had skewed X‐inactivation but in the opposite direction (i.e., inactivation of the mutated allele). Two other female relatives had intermediate cognitive phenotypes and random X‐inactivation. This family broadens the mutational and phenotypical spectrum of <jats:italic>DLG3</jats:italic>‐associated XLID and demonstrates that heterozygous female mutation carriers can be as severely affected as males. Reports of additional families will be needed to elucidate the causes of unfavorable skewing in female XLID patients.</jats:p></jats:sec>