Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.

ABSTRACT:

Background

D-bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe, infantile-onset disorder of peroxisomal fatty acid oxidation. Few affected patients survive past two years of age. Compound heterozygous mutations in HSD17B4 have also been reported in two sisters diagnosed with Perrault syndrome (MIM # 233400), who presented in adolescence with ovarian dysgenesis, hearing loss, and ataxia.

Case presentation

An adult male presented with cerebellar ataxia, peripheral neuropathy, hearing loss, and azoospermia. The clinical presentation, in combination with biochemical findings in serum, urine, and muscle biopsy, suggested a mitochondrial disorder. Commercial genetic testing of 18 ataxia and mitochondrial disease genes was negative. Targeted exo

SUBMITTER: Lieber DS 

PROVIDER: S-EPMC4015298 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature