LARS2-Perrault syndrome: a new case report and literature review.

ABSTRACT: 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 fun

SUBMITTER: Carminho-Rodrigues MT 

PROVIDER: S-EPMC7236518 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature