Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.

Kernohan, K D; McBride, A; Xi, Y; Martin, N; Schwartzentruber, J; Dyment, D A; Majewski, J; Blaser, S; Boycott, K M; Chitayat, D

Kernohan, K D; McBride, A; Xi, Y; Martin, N; Schwartzentruber, J; Dyment, D A; Majewski, J; Blaser, S; Boycott, K M; Chitayat, D.

Afiliação

Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
McBride A; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
Xi Y; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
Martin N; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Canada.
Schwartzentruber J; Genome Quebec Innovation Centre, McGill University, Montreal, Canada.
Dyment DA; Department of Human Genetics, McGill University, Montreal, Canada.
Majewski J; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
Blaser S; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Boycott KM; Department of Human Genetics, McGill University, Montreal, Canada.
Chitayat D; Department of Diagnostic Imaging, Hospital for Sick Children, University of Toronto, Toronto, Canada.

Clin Genet ; 91(5): 708-716, 2017 May.

Article em En | MEDLINE | ID: mdl-27718516

Assuntos

Braquidactilia/genética; Deficiência Intelectual/genética; Microcefalia/genética; Proteína-Arginina N-Metiltransferases/genética; Anormalidades Múltiplas/genética; Arginina/metabolismo; Pré-Escolar; Cromossomos Humanos Par 16; Face/anormalidades; Feminino; Dedos/anormalidades; Deleção de Genes; Humanos; Lactente; Recém-Nascido; Masculino; Sítio de Iniciação de Transcrição; Via de Sinalização Wnt/genética

Palavras-chave

PRMT7; WNT signaling; brachydactyly; intellectual disability; microcephaly; protein arginine methylation; seizures; short stature; whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína-Arginina N-Metiltransferases / Braquidactilia / Deficiência Intelectual / Microcefalia Tipo de estudo: Etiology_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Clin Genet Ano de publicação: 2017 Tipo de documento: Article

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