A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient.

ABSTRACT:

Background

Eight different deletions and point variants of the X-chromosomal gene CNKSR2 have been reported in families with males presenting intellectual disability (ID) and epilepsy. Obligate carrier females with a frameshift variant in the N-terminal protein coding part of CNKSR2 or with a deletion of the complete gene are not affected. Only for one C-terminal nonsense variant, two carrier females were mildly affected by seizures without or with mild motor and language delay.

Methods

Exome sequencing was performed in one female child of a Dutch family, presenting seizures, mild ID, facial dysmorphisms, and abnormalities of the extremities. Potential causative variants were validated by Sanger sequencing. X-chromosome-inactivation (XCI) analysis was performed by methylatio

SUBMITTER: Polla DL 

PROVIDER: S-EPMC6785448 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature