Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.

Farhan, Sali M K; Wang, Jian; Robinson, John F; Prasad, Asuri N; Rupar, C Anthony; Siu, Victoria M; Hegele, Robert A

Farhan, Sali M K; Wang, Jian; Robinson, John F; Prasad, Asuri N; Rupar, C Anthony; Siu, Victoria M; Hegele, Robert A.

Afiliação

Farhan SM; Robarts Research Institute, London, Ontario, Canada Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
Wang J; Robarts Research Institute, London, Ontario, Canada.
Robinson JF; Robarts Research Institute, London, Ontario, Canada.
Prasad AN; Division of Clinical Neurological Sciences, Department of Pediatrics, London Health Sciences Centre, London, Ontario, Canada Children's Health Research Institute, London, Ontario, Canada.
Rupar CA; Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada Children's Health Research Institute, London, Ontario, Canada Medical Genetics Program, Department of Pediatrics, London Health Sciences Centre, London, Ontario, Canada.
Siu VM; Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada Children's Health Research Institute, London, Ontario, Canada Medical Genetics Program, Department of Pediatrics, London Health Sciences Centre, London, Ontario, Canada.
Hegele RA; Robarts Research Institute, London, Ontario, Canada Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

J Med Genet ; 52(10): 666-75, 2015 Oct.

Article em En | MEDLINE | ID: mdl-26246518

Assuntos

Deficiências do Desenvolvimento/genética; Mutação; N-Acetilglucosaminiltransferases/genética; Convulsões/genética; Adulto; Pré-Escolar; Deficiências do Desenvolvimento/etiologia; Exostose/genética; Feminino; Heparitina Sulfato/metabolismo; Humanos; Masculino; N-Acetilglucosaminiltransferases/deficiência; Linhagem; Convulsões/etiologia; Análise de Sequência de DNA

Palavras-chave

EXT2; Heparan sulfate; Intellectual disability; NDST1; Whole-exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Convulsões / Deficiências do Desenvolvimento / N-Acetilglucosaminiltransferases / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Canadá

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