Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.

ABSTRACT:

Objective

To determine the genetic cause of slowly progressive cerebellar ataxia, sensorineural deafness, and hypergonadotropic hypogonadism in 5 patients from 3 different families.

Methods

The patients comprised 2 sib pairs and 1 sporadic patient. Clinical assessment included history, physical examination, and brain MRI. Linkage analysis was performed separately on the 2 sets of sib pairs using single nucleotide polymorphism microarrays, followed by analysis of the intersection of the regions. Exome sequencing was performed on 1 affected patient with variant filtering and prioritization undertaken using these intersected regions.

Results

Using a combination of sequencing technologies, we identified compound heterozygous mutations in HSD17B4 in all 5 affected p

SUBMITTER: Amor DJ 

PROVIDER: S-EPMC5070413 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature