BACKGROUND Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. Mutations in seven different genes have been identified: HARS2, HSD17B4, CLLP, C10orf, ERAL1, TWNK and LARS2. To date, 19 variants have been reported in 18 individuals with LARS2-Perrault syndrome. CASE PRESENTATION Here we describe the case of an 8-year-old girl with compound heterozygous missense mutations in the LARS2 gene. We identified two missense mutations [c.457A > C, p.(Asn153His) and c.1565C > A, p.(Thr522Asn)] and subsequent familial segregation showed that each parent had transmitted a mutation. CONCLUSIONS These results have implications for genetic counseling and provide insight into the functional role of LARS2. This case highlights the importance of an early diagnosis. Systematic genetic screening of children with hearing loss allows the early identification of a Perrault syndrome in order to ensure specific endocrinological surveillance and management to prevent secondary complications. Clinical data are compared with the other cases reported in the literature.

中文翻译：

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LARS2-Perrault综合征：新病例报告和文献复习。

背景技术Perrault综合征是一种罕见的隐性遗传遗传异质性疾病，其特征是男性和女性的感音神经性听力丧失和女性的性腺发育不全。已鉴定出七个不同基因的突变：HARS2，HSD17B4，CLLP，C10orf，ERAL1，TWNK和LARS2。迄今为止，已在18位患有LARS2-Perrault综合征的个体中报告了19种变异。案例介绍在这里，我们描述了一个8岁女孩在LARS2基因中具有复合杂合错义突变的情况。我们鉴定出两个错义突变[c.457A> C，p。（Asn153His）和c.1565C> A，p。（Thr522Asn）]，随后的家族隔离表明，每个亲本都传播了一个突变。结论这些结果对遗传咨询有影响，并提供对LARS2功能作用的见解。该病例突出了早期诊断的重要性。对听力损失儿童进行系统的遗传筛查可以及早发现佩罗综合症，以确保进行专门的内分泌学监测和管理，以防止继发并发症。将临床数据与文献报道的其他病例进行比较。