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Background  Perrault syndrome is a rare multisystem disorder that manifests with sensorineural hearing loss in both sexes, primary ovarian insufficiency in females and neurological features. The syndrome is heterogeneous both genetically and phenotypically.    Case presentation  We reported a consanguineous family (two affected sisters) with Perrault syndrome. The proband had the characteristics of Perrault syndrome: ovarian dysgenesis, bilateral hearing loss and obvious neurological signs. Target genetic sequencing and triplet repeat primed PCR (TP-PCR) plus capillary electrophoresis was conducted to detect causative mutations in the proband. The detected variant was further confirmed in the proband and tested in other family members by Sanger sequencing. Both the proband and her sister were found homozygous for the novel variant  HSD17B4  c.298G > T (p.A100S) with their parents heterozygous. Detected by western blot, the protein expression of  HSD17B4  mutant was much lower than that of the wild type in SH-SY5Y cells transfected by  HSD17B4  wild type or mutant plasmid, which indicated the pathogenicity of the  HSD17B4  mutation.    Conclusions  Our findings supported that  HSD17B4  was one of the genes contributing to Perrault syndrome with the likely pathogenic variant c.298G > T (p.A100S). Special manifestations of cerebellar impairment were found in cases caused by  HSD17B4  mutations. Besides, attention should be paid to distinguish Perrault syndrome from D-bifunctional protein deficiency and hereditary ataxia.    Electronic supplementary material  The online version of this article (doi:10.1186/s12881-017-0453-0) contains supplementary material, which is available to authorized users.

A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome