Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder.

Dai, Zunyan; Whitt, Zachary; Mighion, Lindsey C; Pontoglio, Alessandro; Bean, Lora J H; Colombo, Roberto; Hegde, Madhuri

Dai, Zunyan; Whitt, Zachary; Mighion, Lindsey C; Pontoglio, Alessandro; Bean, Lora J H; Colombo, Roberto; Hegde, Madhuri.

Afiliação

Dai Z; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA; EGL Genetic Diagnostics, 2460 Mountain Industrial Blvd, Tucker, GA 30084, USA. Electronic address: zunyan.dai@emory.edu.
Whitt Z; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA; EGL Genetic Diagnostics, 2460 Mountain Industrial Blvd, Tucker, GA 30084, USA.
Mighion LC; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA; EGL Genetic Diagnostics, 2460 Mountain Industrial Blvd, Tucker, GA 30084, USA.
Pontoglio A; Center for the Study of Rare Hereditary Diseases, Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.
Bean LJH; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA; EGL Genetic Diagnostics, 2460 Mountain Industrial Blvd, Tucker, GA 30084, USA.
Colombo R; Institute of Clinical Biochemistry, Faculty of Medicine, Catholic University of the Sacred Heart, Rome, Italy; Center for the Study of Rare Hereditary Diseases, Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.
Hegde M; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

Eur J Med Genet ; 60(6): 312-316, 2017 Jun.

Article em En | MEDLINE | ID: mdl-28377322

Assuntos

Anormalidades Múltiplas/genética; Artrogripose/genética; Mutação de Sentido Incorreto; Cadeias Pesadas de Miosina/genética; Trismo/genética; Anormalidades Múltiplas/diagnóstico; Artrogripose/diagnóstico; Exoma; Testes Genéticos/normas; Heterozigoto; Humanos; Splicing de RNA; Trismo/diagnóstico

Palavras-chave

Autosomal dominant disorders; Loss-of-function variants; MYH8; Next-generation sequencing (NGS); Variant interpretation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Artrogripose / Trismo / Anormalidades Múltiplas / Cadeias Pesadas de Miosina / Mutação de Sentido Incorreto Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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