Abstract
BackgroundPerrault 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 presentationHere 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.ConclusionsThese 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.
Highlights
Perrault syndrome (MIM: 233400) is a rare recessive genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and ovarian dysfunction in females [1]
AminoacyltRNA synthetases attach specific amino acids to the 3′ ends of their cognate tRNAs, which is required in the cytoplasm and mitochondria for the translation of nuclear and mitochondrial encoded genes, respectively
Apart from two aminoacyl transfer RNA synthases, glycyl-tRNA synthetase and lysyl-tRNA synthetase, all other synthetases are encoded by separate genes for nuclear and mitochondrial functions [6]
Summary
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
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