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Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss.
Yu, Jing; Jiang, Wei; Cao, Li; Na, Xiaoxue; Yang, Jiyun.
Afiliação
  • Yu J; College of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan, 610071, PR China.
  • Jiang W; The Key Laboratory for Human Disease Gene Study of Sichuan Province , Prenatal Diagnosis Center, Sichuan Provincial People's Hospital, the University of Electronic Science and Technology of China, The First Ring Road West Section 2 #32, Chengdu, Sichuan, 610071, PR China.
  • Cao L; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, 610071, PR China.
  • Na X; College of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan, 610071, PR China.
  • Yang J; The Key Laboratory for Human Disease Gene Study of Sichuan Province , Prenatal Diagnosis Center, Sichuan Provincial People's Hospital, the University of Electronic Science and Technology of China, The First Ring Road West Section 2 #32, Chengdu, Sichuan, 610071, PR China.
Hereditas ; 157(1): 47, 2020 Nov 24.
Article em En | MEDLINE | ID: mdl-33228777
ABSTRACT
Mutations in HARS2 are one of the genetic causes of Perrault syndrome, characterized by sensorineural hearing loss (SNHL) and ovarian dysfunction. Here, we identified two novel putative pathogenic variants of HARS2 in a Chinese family with sensorineural hearing loss including two affected male siblings, c.349G > A (p.Asp117Asn) and c.908 T > C (p.Leu303Pro), through targeted next-generation sequencing methods. The two affected siblings (13 and 11 years old) presented with early-onset, rapidly progressive SNHL. The affected siblings did not have any inner ear malformations or delays in gross motor development. Combined with preexisting clinical reports, Perrault syndrome may be latent in some families with non-syndromic deafness associated with HARS2 mutations. The definitive diagnosis of Perrault syndrome based on clinical features alone is a challenge in sporadic males, and preadolescent females with no signs of POI. Our findings further expanded the existing spectrum of HARS2 variants and Perrault syndrome phenotypes, which will assist in molecular diagnosis and genetic counselling of patients with HARS2 mutations.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Alelos / Aminoacil-tRNA Sintetases / Perda Auditiva Neurossensorial / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Alelos / Aminoacil-tRNA Sintetases / Perda Auditiva Neurossensorial / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2020 Tipo de documento: Article