The c.-265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified.

Zampieri, Stefania; Cattarossi, Silvia; Ferri, Lorenzo; Graziano, Claudio; Santostefano, Marisa; Morrone, Amelia; Dardis, Andrea

Zampieri, Stefania; Cattarossi, Silvia; Ferri, Lorenzo; Graziano, Claudio; Santostefano, Marisa; Morrone, Amelia; Dardis, Andrea.

Afiliação

Zampieri S; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.
Cattarossi S; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.
Ferri L; Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.
Graziano C; Medical Genetics Unit, AUSL Romagna, Ravenna, Italy.
Santostefano M; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
Morrone A; Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.
Dardis A; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.

Clin Genet ; 106(5): 661-663, 2024 Nov.

Article em En | MEDLINE | ID: mdl-39023102

ABSTRACT

ABSTRACT

Here, we report the identification and functional characterization of a novel GLA variant, not detectable by routine molecular tests, in a family with FD suspicion.

Assuntos

Doença de Fabry; Linhagem; Regiões Promotoras Genéticas; alfa-Galactosidase; Humanos; Doença de Fabry/genética; Doença de Fabry/diagnóstico; alfa-Galactosidase/genética; Regiões Promotoras Genéticas/genética; Masculino; Feminino; Mutação/genética; Adulto; Predisposição Genética para Doença; Pessoa de Meia-Idade

Palavras-chave

Fabry; GLA; mutations; promoter

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Linhagem / Regiões Promotoras Genéticas / Doença de Fabry / Alfa-Galactosidase Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Genet Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Itália

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