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| Xia,Hong; Huang,Xiangjun; Xu,Hongbo; Zhou,Yong-an; Gong,Lina; Yang,Zhijian; Lv,Jingyan; Deng,Hao. |
| Abstract Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous neurosensory disorder, usually characterized by congenital or prelingual hearing loss. We report a Han Chinese male, born to consanguineous parents, presenting with nonsyndromic sensorineural hearing loss, whose clinical phenotype was also consistent with auditory neuropathy spectrum disorder (ANSD). After exome sequencing, a gap junction protein beta 2 gene (GJB2) c.235delC variant in the homozygous state was detected in the patient. Both parents were heterozygous for this variant, as documented by Sanger sequencing. The known pathogenic GJB2 c.235delC variant was not detected in 200 healthy controls. It is predicted to be a disease-causing alteration by... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Auditory neuropathy spectrum disorder; Exome sequencing; Hearing loss; GJB2 gene; GJB2 c.235delC variant. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000100048 |
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| Tongkobpetch,Siraprapa; Limpaphayom,Noppachart; Sangsin,Apiruk; Porntaveetus,Thantrira; Suphapeetiporn,Kanya; Shotelersuk,Vorasuk. |
| Abstract Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events. We identified a Thai boy with OI whose parents were first cousins. Because the proband was the product of a consanguineous marriage, we hypothesized that he might be homozygous for a mutation in a known gene causing a recessive form of OI. Using whole exome sequencing (WES), we did not find any pathogenic mutations in any known gene responsible for an autosomal recessive form of OI. Instead, we identified a COL1A1 frameshift mutation, c.1290delG (p.Gly431Valfs*110) in heterozygosis. By Sanger sequencing, the mutation was confirmed in the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Osteogenesis imperfect; COL1A1; Exome sequencing; Next generation sequencing; Thai. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500763 |
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