Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.

Takahashi, S; Matsufuji, M; Yonee, C; Tsuru, H; Sano, N; Oguni, H

Takahashi, S; Matsufuji, M; Yonee, C; Tsuru, H; Sano, N; Oguni, H.

Afiliação

Takahashi S; Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.
Matsufuji M; Department of Pediatrics, National Hospital Organization Minami Kyushu Hospital, Kagoshima, Japan.
Yonee C; Department of Pediatrics, National Hospital Organization Minami Kyushu Hospital, Kagoshima, Japan.
Tsuru H; Department of Pediatrics, National Hospital Organization Minami Kyushu Hospital, Kagoshima, Japan.
Sano N; Department of Pediatrics, National Hospital Organization Minami Kyushu Hospital, Kagoshima, Japan.
Oguni H; Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.

Clin Genet ; 91(6): 932-933, 2017 Jun.

Article em En | MEDLINE | ID: mdl-28124377

ABSTRACT

ABSTRACT

A heterozygous SLC2A1 mutation in the severely affected child was inherited from his less severely affected mother who was mosaic for the mutation.

Assuntos

Erros Inatos do Metabolismo dos Carboidratos/genética; Aconselhamento Genético; Transportador de Glucose Tipo 1/genética; Proteínas de Transporte de Monossacarídeos/deficiência; Adulto; Erros Inatos do Metabolismo dos Carboidratos/diagnóstico; Erros Inatos do Metabolismo dos Carboidratos/patologia; Feminino; Heterozigoto; Humanos; Masculino; Proteínas de Transporte de Monossacarídeos/genética; Mosaicismo; Mutação; Linhagem

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte de Monossacarídeos / Erros Inatos do Metabolismo dos Carboidratos / Transportador de Glucose Tipo 1 / Aconselhamento Genético Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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