Novel missense mutation in the CLPP gene causes Perrault Syndrome type-3 in a Turkish family.

Novel missense mutation in the CLPP gene causes Perrault Syndrome type-3 in a Turkish family.

J Clin Res Pediatr Endocrinol. 2016 Apr 18;

Authors: Dursun F, Mohamoud HS, Karim N, Naeem M, Jelani M, Kırmızıbekmez H

Abstract
Perrault syndrome (PRLTS) is a heterogeneous group of clinical and genetic disorders in which patients are characterized by sensory neuronal hearing loss, in both sexes and premature ovarian failure or infertility in females. Neurological and hearing loss symptoms appear early in life; however, female infertility obviously cannot be detected before puberty. In addition to this, spastic limbs, muscle weakness, delayed puberty; irregular menstrual cycles have also been observed in PRLTS patients. Mutations in five genes, HSD17B4, HARS2, CLPP, LARS2, and C10orf2, have been reported in five subtypes of PRLTS. Here we report a milder phenotype of PRLTS in a Turkish family in which two affected patients had no neurological findings; however, they both were characterized by sensory neuronal hearing loss and only the female also had secondary amenorrhea and gonadal dysgenesis. Genome-wide homozygosity mapping using 300K SNP microarray analysis together with iScan platform (Illumina, USA) followed by candidate gene Sanger sequencing with ABI 3500 Genetic Analyzer (Life Technologies, USA) were used for molecular diagnosis. We found a novel missense alteration c.624C>G; p.Ile208Met in exon 5 of the CLPP at chromosome 19p13.3. This study expands the mutation spectrum of CLPP pathogenicity in PRLTS type-3 phenotype.

PMID: 27087618 [PubMed - as supplied by publisher]

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