Fragile X syndrome in a male with methylated premutation alleles and no detectable methylated full mutation alleles.

Hayward, Bruce; Loutaev, Inna; Ding, Xiaohua; Nolin, Sarah L; Thurm, Audrey; Usdin, Karen; Smith, Carolyn B

Hayward, Bruce; Loutaev, Inna; Ding, Xiaohua; Nolin, Sarah L; Thurm, Audrey; Usdin, Karen; Smith, Carolyn B.

Afiliação

Hayward B; Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland.
Loutaev I; Section on Neuroadaptation and Protein Metabolism, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
Ding X; Molecular Diagnostic Laboratory, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York.
Nolin SL; Molecular Diagnostic Laboratory, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York.
Thurm A; Office of the Clinical Director, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
Usdin K; Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland.
Smith CB; Section on Neuroadaptation and Protein Metabolism, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.

Am J Med Genet A ; 179(10): 2132-2137, 2019 10.

Article em En | MEDLINE | ID: mdl-31356000

Assuntos

Alelos; Metilação de DNA/genética; Síndrome do Cromossomo X Frágil/genética; Mutação/genética; Pré-Escolar; Proteína do X Frágil da Deficiência Intelectual/genética; Síndrome do Cromossomo X Frágil/psicologia; Humanos; Masculino; Adulto Jovem

Palavras-chave

FMR1; fragile X syndrome; gene methylation; premutation allele

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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Metilação de DNA / Alelos / Síndrome do Cromossomo X Frágil / Mutação Limite: Adult / Child, preschool / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article

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