Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants.

ABSTRACT:

Background

Houge type of X-linked syndromic mental retardation (MRXSHG) is a type of X-linked condition which is mainly manifested as delayed development, mental retardation, epilepsy that begins at an early age, and delayed language acquisition. MRXSHG is a serious disorder with CNKSR2 variant and at least 34 variants have been identified in MRXSHG patients. However, the genotype-phenotype correlation and variants characteristics of CNKSR2 need further investigation and improvement.

Methods

Two Chinese MRXSHG families were recruited, and their genetic causes were investigated using whole-exome sequencing (WES), Sanger sequencing, and bioinformatics analysis. To verify the impact of these variants, we used real-time PCR and minigenes consisting of exon 14, intron 14, and exo

SUBMITTER: Chang SH 

PROVIDER: S-EPMC11806549 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature