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

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...

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Bibliographic Details
Main Authors: Daniel L. Polla, Harriet R. Saunders, Bert B. A. deVries, Hans vanBokhoven, Arjan P. M. deBrouwer
Format: Article
Language:English
Published: Wiley 2019-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CNKSR2
de novo
exome sequencing
intellectual disability
X‐linked
Online Access:https://doi.org/10.1002/mgg3.861

Internet

https://doi.org/10.1002/mgg3.861

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