A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis.

Fu, Jiewen; Ma, Lu; Cheng, Jingliang; Yang, Lisha; Wei, Chunli; Fu, Shangyi; Lv, Hongbin; Chen, Rui; Fu, Junjiang

Fu, Jiewen; Ma, Lu; Cheng, Jingliang; Yang, Lisha; Wei, Chunli; Fu, Shangyi; Lv, Hongbin; Chen, Rui; Fu, Junjiang.

Afiliação

Fu J; Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China.
Ma L; Institute of Medical Technology, Xiangtan Medicine and Health Vocational College, Xiangtan, Hunan, China.
Cheng J; Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China.
Yang L; Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China.
Wei C; Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China.
Fu S; Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China.
Lv H; The Honors College, University of Houston, Houston, Texas.
Chen R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Fu J; Department of Ophthalmology, Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China.

J Cell Mol Med ; 22(11): 5662-5669, 2018 11.

Article em En | MEDLINE | ID: mdl-30160356

Assuntos

Caderinas/genética; Proteínas do Tecido Nervoso/genética; Retina/metabolismo; Distrofias Retinianas/genética; Adulto; Animais; Proteínas Relacionadas a Caderinas; China; Códon sem Sentido/genética; Análise Mutacional de DNA; Feminino; Sequenciamento de Nucleotídeos em Larga Escala; Homozigoto; Humanos; Masculino; Camundongos; Pessoa de Meia-Idade; Linhagem; Fenótipo; Retina/patologia; Distrofias Retinianas/fisiopatologia

Palavras-chave

CDHR1 gene; expression; nonsense mutation; retinal dystrophy; targeted next-generation sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retina / Caderinas / Distrofias Retinianas / Proteínas do Tecido Nervoso Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Adult / Animals / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: J Cell Mol Med Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China

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