A novel <i>PAK3</i> pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.

Iida, Aritoshi; Takano, Kyoko; Takeshita, Eri; Abe-Hatano, Chihiro; Hirabayashi, Shinichi; Inaba, Yuji; Kosugi, Shunichi; Kamatani, Yoichiro; Momozawa, Yukihide; Kubo, Michiaki; Nakagawa, Eiji; Inoue, Ken; Goto, Yu-Ichi

A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.

Iida, Aritoshi; Takano, Kyoko; Takeshita, Eri; Abe-Hatano, Chihiro; Hirabayashi, Shinichi; Inaba, Yuji; Kosugi, Shunichi; Kamatani, Yoichiro; Momozawa, Yukihide; Kubo, Michiaki; Nakagawa, Eiji; Inoue, Ken; Goto, Yu-Ichi.

Afiliação

Iida A; Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo 187-8551, Japan.
Takano K; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Nagano 390-8621, Japan.
Takeshita E; Department of Child Neurology, National Center Hospital, NCNP, Kodaira, Tokyo 187-8551, Japan.
Abe-Hatano C; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Kodaira, Tokyo 187-8551, Japan.
Hirabayashi S; Division of Child Neurology, Nagano Children's Hospital, Azumino, Nagano 399-8288, Japan.
Inaba Y; Division of Child Neurology, Nagano Children's Hospital, Azumino, Nagano 399-8288, Japan.
Kosugi S; Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan.
Kamatani Y; Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan.
Momozawa Y; Laboratory of Complex Trait Genomics Department of Computational Biology and Medical Sciences Graduate School of Frontier Sciences, The University of Tokyo, Tokyo 108-8639, Japan.
Kubo M; Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan.
Nakagawa E; RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan.
Inoue K; Department of Child Neurology, National Center Hospital, NCNP, Kodaira, Tokyo 187-8551, Japan.
Goto YI; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Kodaira, Tokyo 187-8551, Japan.

Cold Spring Harb Mol Case Stud ; 5(6)2019 12.

Article em En | MEDLINE | ID: mdl-31444167

Assuntos

Deficiência Intelectual Ligada ao Cromossomo X/genética; Quinases Ativadas por p21/genética; Criança; Deficiências do Desenvolvimento/genética; Exoma; Genes Ligados ao Cromossomo X/genética; Estudos de Associação Genética; Humanos; Lactente; Deficiência Intelectual/genética; Deficiência Intelectual/metabolismo; Japão; Masculino; Deficiência Intelectual Ligada ao Cromossomo X/metabolismo; Microcefalia/genética; Mutação; Mutação de Sentido Incorreto/genética; Linhagem; Fenótipo; Irmãos; Sequenciamento do Exoma/métodos; Quinases Ativadas por p21/metabolismo

Palavras-chave

intellectual disability; severe

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiência Intelectual Ligada ao Cromossomo X / Quinases Ativadas por p21 Tipo de estudo: Prognostic_studies Limite: Child / Humans / Infant / Male País como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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