A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family.

Qu, Ronggui; Sang, Qing; Wang, Xueqian; Xu, Yao; Chen, Biaobang; Mu, Jian; Zhang, Zhihua; Jin, Li; He, Lin; Wang, Lei

Qu, Ronggui; Sang, Qing; Wang, Xueqian; Xu, Yao; Chen, Biaobang; Mu, Jian; Zhang, Zhihua; Jin, Li; He, Lin; Wang, Lei.

Afiliação

Qu R; Shanghai Ji Ai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, 200011, China.
Sang Q; State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, 200438, China.
Wang X; State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, 200438, China.
Xu Y; State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, 200438, China.
Chen B; State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, 200438, China.
Mu J; State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, 200438, China.
Zhang Z; State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, 200438, China.
Jin L; State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, 200438, China.
He L; State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, 200438, China.
Wang L; Bio-X Center, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, 200030, China.

Ann Hum Genet ; 84(1): 46-53, 2020 01.

Article em En | MEDLINE | ID: mdl-31495922

Assuntos

Genes Recessivos; Homozigoto; Deficiência Intelectual/etiologia; Mutação; N-Acilneuraminato Citidililtransferase/genética; Adulto; Sequência de Aminoácidos; Consanguinidade; Feminino; Seguimentos; Humanos; Deficiência Intelectual/patologia; Masculino; Pessoa de Meia-Idade; Linhagem; Prognóstico; Homologia de Sequência; Adulto Jovem

Palavras-chave

CMP-sialic acid synthetase (CMAS); intellectual disability (ID); protein expression; whole-exome sequencing

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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: N-Acilneuraminato Citidililtransferase / Genes Recessivos / Homozigoto / Deficiência Intelectual / Mutação Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Hum Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China

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