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Review
. 2020 May 18;21(1):109.
doi: 10.1186/s12881-020-01028-8.

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

Maria Teresa Carminho-Rodrigues  1 , Phillipe Klee  2 , Sacha Laurent  3 , Michel Guipponi  3 , Marc Abramowicz  3 , Hélène Cao-van  4 , Nils Guinand  4 , Ariane Paoloni-Giacobino  3
Affiliations
Review

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

Maria Teresa Carminho-Rodrigues et al. BMC Med Genet. .

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 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.

Keywords: LARS2; Perrault syndrome; Sensorineural hearing loss; Whole-exome sequencing.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Tonal audiogram: on both sides
See this image and copyright information in PMC

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