Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature.

Gug, Cristina; Caba, Lavinia; Mozos, Ioana; Stoian, Dana; Atasie, Diter; Gug, Miruna; Gorduza, Eusebiu Vlad

Gug, Cristina; Caba, Lavinia; Mozos, Ioana; Stoian, Dana; Atasie, Diter; Gug, Miruna; Gorduza, Eusebiu Vlad.

Afiliação

Gug C; Department of Microscopic Morphology, "Victor Babes" University of Medicine and Pharmacy, Timisoara, Romania.
Caba L; Department 8 - Medicine of Mother and Child "Grigore T. Popa", University of Medicine and Pharmacy, Iasi, Romania. Electronic address: lavinia_zanet@yahoo.com.
Mozos I; Department of Functional Sciences, "Victor Babes" University of Medicine and Pharmacy, Timisoara, Romania; Center for Translational Research and Systems Medicine, "Victor Babes" University of Medicine and Pharmacy, Timisoara, Romania. Electronic address: ioanamozos@umft.ro.
Stoian D; 2nd Department of Internal Medicine, "Victor Babes" University of Medicine and Pharmacy, Timisoara, Romania. Electronic address: stoian.dana@umft.ro.
Atasie D; Department of Clinical Medicine, Faculty of Medicine, "Lucian Blaga" University, Sibiu, Romania.
Gug M; "Victor Babes" University of Medicine and Pharmacy, Timisoara, Romania.
Gorduza EV; Department 8 - Medicine of Mother and Child "Grigore T. Popa", University of Medicine and Pharmacy, Iasi, Romania.

Gene ; 741: 144565, 2020 May 30.

Article em En | MEDLINE | ID: mdl-32165296

Assuntos

Colágeno Tipo I/genética; Sequenciamento do Exoma; Osteogênese Imperfeita/genética; Isoformas de Proteínas/genética; Adulto; Processamento Alternativo/genética; Cadeia alfa 1 do Colágeno Tipo I; Exoma/genética; Feminino; Genótipo; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Masculino; Mutação/genética; Osteogênese Imperfeita/patologia; Linhagem; Gravidez; Diagnóstico Pré-Natal

Palavras-chave

COL1A1 gene; Osteogenesis imperfecta; Splicing mutation; Whole exomes sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Isoformas de Proteínas / Colágeno Tipo I / Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies / Systematic_reviews Limite: Adult / Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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