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Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome.
Zhou, Tai-Cheng; Duan, Wen-Hua; Fu, Xiao-Lin; Zhu, Qin; Guo, Li-Yun; Zhou, Yuan; Hua, Zhi-Juan; Li, Xue-Jiao; Yang, Dong-Mei; Zhang, Jie-Ying; Yin, Jie; Zhang, Xiao-Fan; Zhou, Guang-Long; Hu, Min.
Afiliação
  • Zhou TC; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Duan WH; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Fu XL; Hainan Western Central Hospital, Danzhou, Hainan Province, China.
  • Zhu Q; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Guo LY; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Zhou Y; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Hua ZJ; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Li XJ; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Yang DM; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Zhang JY; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Yin J; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Zhang XF; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Zhou GL; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Hu M; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China. fudanhumin123@sina.com.
Sci Rep ; 10(1): 16225, 2020 10 01.
Article em En | MEDLINE | ID: mdl-33004823
Duane retraction syndrome (DRS) is a neuromuscular dysfunction of the eyes. Although many causative genes of DRS have been identified in Europe and the United States, few reports have been published in regard to Chinese DRS. The aim of the present study was to explore the genetic defect of DRS in a Chinese family. Exome sequencing was used to identify the disease-causing gene for the two affected family members. Ophthalmic and physical examinations, as well as genetic screenings for variants in chimerin 1 (CHN1), were performed for all family members. Functional analyses of a CHN1 variant in 293T cells included a Rac-GTP activation assay, α2-chimaerin translocation assay, and co-immunoprecipitation assay. Genetic analysis revealed a NM_001822.7: c.637T > G variant in the CHN1 gene, which resulted in the substitution of a highly conserved C1 domain with valine at codon 213 (NP_001813.1: p.(Phe213Val)) (ClinVar Accession Number: SCV001335305). In-silico analysis revealed that the p.(Phe213Val) substitution affected the protein stability and connections among the amino acids of CHN1 in terms of its tertiary protein structure. Functional studies indicated that the p.(Phe213Val) substitution reduced Rac-GTP activity and enhanced membrane translocation in response to phorbol-myristoyl acetate (PMA). Together with previous studies, our present findings demonstrate that CHN1 may be an important causative gene for different ethnicities with DRS.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article