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Mutations in  HARS2  are one of the genetic causes of Perrault syndrome, characterized by sensorineural hearing loss (SNHL) and ovarian dysfunction. Here, we identified two novel putative pathogenic variants of  HARS2  in a Chinese family with sensorineural hearing loss including two affected male siblings, c.349G > A (p.Asp117Asn) and c.908 T > C (p.Leu303Pro), through targeted next-generation sequencing methods. The two affected siblings (13 and 11 years old) presented with early-onset, rapidly progressive SNHL. The affected siblings did not have any inner ear malformations or delays in gross motor development. Combined with preexisting clinical reports, Perrault syndrome may be latent in some families with non-syndromic deafness associated with  HARS2  mutations. The definitive diagnosis of Perrault syndrome based on clinical features alone is a challenge in sporadic males, and preadolescent females with no signs of POI. Our findings further expanded the existing spectrum of  HARS2  variants and Perrault syndrome phenotypes, which will assist in molecular diagnosis and genetic counselling of patients with  HARS2  mutations.   Supplementary Information  The online version contains supplementary material available at 10.1186/s41065-020-00157-7.

Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss