Open AccessWhole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum
Author(s) -
Lenberg Jerica L.,
Pretorius Dolores H.,
Rupe Eric S.,
Jones Marilyn C.,
Ramos Gladys A.,
Andreasen Tara S.
Publication year - 2019
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2051
Subject(s) - agenesis of the corpus callosum , exome sequencing , medicine , corpus callosum , fetus , agenesis , exome , pregnancy , anatomy , genetics , pathology , bioinformatics , gene , biology , mutation
Key Clinical Message Whole‐exome sequencing in a female fetus detected a USP9X variant. This X‐linked gene was recently associated with intellectual disability and distinct pattern of malformation in females. Isolated agenesis of the corpus callosum has not been reported in association with USP9X . Identifying this variant impacted management of the subsequent pregnancy.