Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.

ABSTRACT:

Background

The calcium/calmodulin-dependent serine protein kinase gene (CASK) is an essential gene in mammals, critical for neurodevelopment. The purpose of this study is to expand the understanding of the diagnosis of CASK-linked disorders.

Materials/methods

From clinical and genetic mutational analyses, relevant data in 2 Han Chinese patients were collected and analyzed. Real-time quantitative PCR (RT-qPCR) was performed to investigate the CASK expression levels in the patients. The X-chromosome inactivation (XCI) patterns of the patients and their nuclear families were tested by quantitation of methylation of the polymorphic human androgen receptor (HUMARA) locus.

Results

Two Han Chinese patients both presented with intellectual disability (ID), microcephaly with p

SUBMITTER: Yang K 

PROVIDER: S-EPMC9651610 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature