A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.

Bourque, Danielle K; Hartley, Taila; Nikkel, Sarah M; Pohl, Daniela; Tétreault, Martine; Kernohan, Kristin D; Dyment, David A

Bourque, Danielle K; Hartley, Taila; Nikkel, Sarah M; Pohl, Daniela; Tétreault, Martine; Kernohan, Kristin D; Dyment, David A.

Afiliação

Bourque DK; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. Electronic address: dbourque@cheo.on.ca.
Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Nikkel SM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Pohl D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Tétreault M; Department of Human Genetics, McGill University, Québec, Canada; McGill University and Genome Quebec Innovation Center, Montreal, Québec, Canada.
Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Dyment DA; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

Eur J Med Genet ; 61(2): 89-93, 2018 Feb.

Article em En | MEDLINE | ID: mdl-29066376

Assuntos

Epilepsia/genética; Deficiência Intelectual/genética; Microcefalia/genética; Mutação de Sentido Incorreto; Proteínas Ribossômicas/genética; Adolescente; Epilepsia/patologia; Exoma; Humanos; Deficiência Intelectual/patologia; Masculino; Microcefalia/patologia; Proteína Ribossômica L10; Síndrome

Palavras-chave

Epilepsy; Exome sequencing; Intellectual disability; Ribosomopathy; rpl10

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / Mutação de Sentido Incorreto / Epilepsia / Deficiência Intelectual / Microcefalia Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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