A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology.

Pen, Anja E; Nyegaard, Mette; Fang, Mingyan; Jiang, Hui; Christensen, Rikke; Mølgaard, Henning; Andersen, Henning; Ulhøi, Benedicte Parm; Østergaard, John R; Væth, Signe; Sommerlund, Mette; de Brouwer, Arjan P M; Zhang, Xiuqing; Jensen, Uffe B

Pen, Anja E; Nyegaard, Mette; Fang, Mingyan; Jiang, Hui; Christensen, Rikke; Mølgaard, Henning; Andersen, Henning; Ulhøi, Benedicte Parm; Østergaard, John R; Væth, Signe; Sommerlund, Mette; de Brouwer, Arjan P M; Zhang, Xiuqing; Jensen, Uffe B.

Afiliação

Pen AE; Department of Clinical Genetics, Aarhus University Hospital, Skejby, Denmark.
Nyegaard M; Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Fang M; BGI-Shenzhen, Shenzhen 518083, China.
Jiang H; BGI-Shenzhen, Shenzhen 518083, China; Shenzhen Key Laboratory of Genomics, Shenzhen 518083, China; The Guangdong Enterprise Key Laboratory of Human Disease Genomics, Shenzhen 518083, China.
Christensen R; Department of Clinical Genetics, Aarhus University Hospital, Skejby, Denmark.
Mølgaard H; Department of Cardiology, Aarhus University, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Andersen H; Department of Neurology, Aarhus University, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Ulhøi BP; Department of Pathology, Aarhus University Hospital, Aarhus, Denmark.
Østergaard JR; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.
Væth S; Department of Clinical Genetics, Aarhus University Hospital, Skejby, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Sommerlund M; Department of Dermatology, Aarhus University, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
de Brouwer AP; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Holland.
Zhang X; BGI-Shenzhen, Shenzhen 518083, China; Shenzhen Key Laboratory of Genomics, Shenzhen 518083, China; The Guangdong Enterprise Key Laboratory of Human Disease Genomics, Shenzhen 518083, China.
Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Skejby, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark. Electronic address: uffejens@rm.dk.

Eur J Med Genet ; 58(4): 222-9, 2015 Apr.

Article em En | MEDLINE | ID: mdl-25724586

Assuntos

Cromossomos Humanos X/genética; Fácies; Peptídeos e Proteínas de Sinalização Intracelular/genética; Proteínas com Domínio LIM/genética; Proteínas Musculares/genética; Distrofia Muscular de Emery-Dreifuss/genética; Artéria Pulmonar/patologia; Sequência de Bases; Dinamarca; Exoma/genética; Família; Ligação Genética/genética; Humanos; Masculino; Músculo Esquelético/metabolismo; Miocárdio/metabolismo; Linhagem; Polimorfismo de Nucleotídeo Único; Isoformas de Proteínas/genética; Análise de Sequência de DNA

Palavras-chave

Exome sequencing; Linkage analysis; Muscular dystrophy; Splice site mutation; X-linked

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Artéria Pulmonar / Fácies / Distrofia Muscular de Emery-Dreifuss / Cromossomos Humanos X / Peptídeos e Proteínas de Sinalização Intracelular / Proteínas com Domínio LIM / Proteínas Musculares Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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