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...
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| Format: | Article |
| Language: | English |
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BMC
2020-05-01
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| Series: | BMC Medical Genetics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12881-020-01028-8 |
| _version_ | 1818859040195739648 |
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| author | Maria Teresa Carminho-Rodrigues Phillipe Klee Sacha Laurent Michel Guipponi Marc Abramowicz Hélène Cao-van Nils Guinand Ariane Paoloni-Giacobino |
| author_facet | Maria Teresa Carminho-Rodrigues Phillipe Klee Sacha Laurent Michel Guipponi Marc Abramowicz Hélène Cao-van Nils Guinand Ariane Paoloni-Giacobino |
| author_sort | Maria Teresa Carminho-Rodrigues |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-19T09:05:51Z |
| format | Article |
| id | doaj.art-102969af2e104a7a9fb8417aa5423bf4 |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-19T09:05:51Z |
| publishDate | 2020-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-102969af2e104a7a9fb8417aa5423bf42022-12-21T20:28:20ZengBMCBMC Medical Genetics1471-23502020-05-012111910.1186/s12881-020-01028-8LARS2-Perrault syndrome: a new case report and literature reviewMaria Teresa Carminho-Rodrigues0Phillipe Klee1Sacha Laurent2Michel Guipponi3Marc Abramowicz4Hélène Cao-van5Nils Guinand6Ariane Paoloni-Giacobino7Department of Genetic Medicine, University Hospitals of Geneva RueDepartement of Pediatrics endocrinology, Geneva University HospitalDepartment of Genetic Medicine, University Hospitals of Geneva RueDepartment of Genetic Medicine, University Hospitals of Geneva RueDepartment of Genetic Medicine, University Hospitals of Geneva RueDepartement of ENT, Geneva University HospitalDepartement of ENT, Geneva University HospitalDepartment of Genetic Medicine, University Hospitals of Geneva RueAbstract 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.http://link.springer.com/article/10.1186/s12881-020-01028-8Perrault syndromeLARS2Whole-exome sequencingSensorineural hearing loss |
| spellingShingle | Maria Teresa Carminho-Rodrigues Phillipe Klee Sacha Laurent Michel Guipponi Marc Abramowicz Hélène Cao-van Nils Guinand Ariane Paoloni-Giacobino LARS2-Perrault syndrome: a new case report and literature review BMC Medical Genetics Perrault syndrome LARS2 Whole-exome sequencing Sensorineural hearing loss |
| title | LARS2-Perrault syndrome: a new case report and literature review |
| title_full | LARS2-Perrault syndrome: a new case report and literature review |
| title_fullStr | LARS2-Perrault syndrome: a new case report and literature review |
| title_full_unstemmed | LARS2-Perrault syndrome: a new case report and literature review |
| title_short | LARS2-Perrault syndrome: a new case report and literature review |
| title_sort | lars2 perrault syndrome a new case report and literature review |
| topic | Perrault syndrome LARS2 Whole-exome sequencing Sensorineural hearing loss |
| url | http://link.springer.com/article/10.1186/s12881-020-01028-8 |
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