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

a.lsfakia shared this article with you from Inoreader Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss. Via pubmed: familial hearing los... Related Articles Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss. Hereditas. 2020 Nov 24;157(1):47 Authors: Yu J, Jiang W, Cao L, Na X, Yang J Abstract 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 existi ng spectrum of HARS2 variants and Perrault syndrome phenotypes, which will assist in molecular diagnosis and genetic counselling of patients with HARS2 mutations. PMID: 33228777 [PubMed - in process] View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.