A Homozygous Missense Variant in <i>HSD17B4</i> Identified in Two Different Families

Abstract

<b><i>Background:</i></b> Perrault syndrome is an inherited disorder with clinical findings that differ according to sex. It is characterized by a variable age of onset and sensorineural hearing loss in both sexes, as well as ovarian dysfunction in females with a 46,XX karyotype. Although it is a rare autosomal recessive syndrome, with approximately 100 affected individuals reported in the literature, it shows both genotypic and phenotypic variations. Mutations in the <i>HSD17B4</i> gene have been identified as one of the genetic causes of Perrault syndrome. <b><i>Case Presentation:</i></b> A female case and a male case from two different unrelated families with a new variant in the <i>HSD17B4</i> gene, which were not previously described in the literature and were accompanied by hearing loss, skeletal anomalies, and neurological symptoms, were presented. <b><i>Conclusion:</i></b> We defined Perrault syndrome cases in Turkey caused by a novel mutation in <i>HSD17B4</i>. Whole-exome sequencing is a useful diagnostic technique with varying clinical results due to genetic and phenotypic heterogeneity.