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Open Access 01-12-2020 | Case report

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

Authors: Maria Teresa Carminho-Rodrigues, Phillipe Klee, Sacha Laurent, Michel Guipponi, Marc Abramowicz, Hélène Cao-van, Nils Guinand, Ariane Paoloni-Giacobino

Published in: BMC Medical Genetics | Issue 1/2020

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.

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Title: LARS2-Perrault syndrome: a new case report and literature review
Authors: Maria Teresa Carminho-Rodrigues
Phillipe Klee
Sacha Laurent
Michel Guipponi
Marc Abramowicz
Hélène Cao-van
Nils Guinand
Ariane Paoloni-Giacobino
Publication date: 01-12-2020
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2020
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/s12881-020-01028-8

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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