Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.

ABSTRACT:

Objective

Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na(+) /H(+) exchanger 6 (NHE6). We aimed to determine the diagnostic criteria and mutational spectrum for CS.

Methods

Twelve independent pedigrees (14 boys, age = 4-19 years) with mutations in NHE6 were administered standardized research assessments, and mutations were characterized.

Results

The mutational spectrum was composed of 9 single nucleotide variants, 2 indels, and 1 copy number variation deletion. All mutations were protein-truncating or splicing mutations. We identified 2 recurrent mutations (c.1498 c>t, p.R500X; and c.1710 g>a, p.W570X). Otherwise, all mutations were unique. In our study, 7 of 12 mutations (58%) were de novo, in contrast to prior li

SUBMITTER: Pescosolido MF 

PROVIDER: S-EPMC4304796 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature