Clinical and genetic analysis of Christianson syndrome caused by variant of SLC9A6: case report and literature review.

ABSTRACT:

Background

Intellectual disability, X-linked, syndromic, Christianson type (MRXSCH, OMIM: 300243)-known as Christianson syndrome (CS)-is characterized by microcephaly, epilepsy, ataxia, and absence of verbal language ability. CS is attributed to mutations in the solute carrier family 9 member A6 gene (SLC9A6).

Materials and methods

This study reports the case of a boy 1 year and 3 months of age who was diagnosed with CS in our department. Genetic etiology was determined by whole-exome sequencing, and a minigene splicing assay was used to verify whether the mutation affected splicing. A literature review of CS cases was conducted and the clinical and genetic features were summarized.

Results

The main clinical manifestations of CS include seizures, developmental

SUBMITTER: Dong Y 

PROVIDER: S-EPMC10196350 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature