Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.

ABSTRACT:

Background

Woodhouse-Sakati syndrome is a rare autosomal recessive disease with endocrine and neuroectodermal aberrations with heterogeneous phenotypes and disease course. The most common phenotypes of the disease are progressive sensorineural hearing loss and alopecia, mild-to-moderate mental retardation and hypogonadism. The disease results from mutations in the DCAF17 gene.

Method

Here, we reported a large consanguineous pedigree with multiple affected individuals with Woodhouse-Sakati syndrome phenotypes. Laboratory tests confirmed the endocrine perturbance in affected individuals. To find out the underlying genetic change, whole-exome sequencing was carried out.

Result

Analysis of the exome data identified a splicing-site deletion NM_025000.3:c.1423-1_1425delGACA

SUBMITTER: Fozia F 

PROVIDER: S-EPMC8761431 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature