Background: Variants in the HARS2 gene have been reported to be associated with nonsyndromic hearing loss (HL) and Perrault syndrome (PS), a rare recessive disorder marked by bilateral sensorineural HL and ovarian dysgenesis. Given the low number of pathogenic variants described in the HARS2 gene, no genotype/phenotype correlations have been established between variants in this gene and the clinical data.

中文翻译：

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扩展 HARS2-Perrault 综合征的临床和分子谱：鉴定 HARS2 基因中的新型纯合错义变体

背景：据报道， HARS2基因的变异鉴于HARS2基因中描述的致病变异数量较少，在该基因的变异与临床数据之间没有建立基因型/表型相关性。