Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities.

Mangano, Giuseppe Donato; Fontana, Antonina; Salpietro, Vincenzo; Antona, Vincenzo; Mangano, Giuseppa Renata; Nardello, Rosaria

Mangano, Giuseppe Donato; Fontana, Antonina; Salpietro, Vincenzo; Antona, Vincenzo; Mangano, Giuseppa Renata; Nardello, Rosaria.

Afiliação

Mangano GD; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical, Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy.
Fontana A; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical, Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy.
Salpietro V; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, Genoa, 16147,
Antona V; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical, Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy.
Mangano GR; Department of Psychology, Educational Sciences and Human Movement, University of Palermo, Italy.
Nardello R; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical, Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy. Electronic address: rosaria.nardello@unipa.it.

Eur J Med Genet ; 65(3): 104441, 2022 Mar.

Article em En | MEDLINE | ID: mdl-35091116

Assuntos

Transtorno do Espectro Autista; Proteína do X Frágil da Deficiência Intelectual; Síndrome do Cromossomo X Frágil; Deficiência Intelectual; Transtorno do Espectro Autista/complicações; Transtorno do Espectro Autista/genética; Feminino; Proteína do X Frágil da Deficiência Intelectual/genética; Proteína do X Frágil da Deficiência Intelectual/metabolismo; Síndrome do Cromossomo X Frágil/genética; Humanos; Deficiência Intelectual/complicações; Deficiência Intelectual/genética; Masculino; Mutação de Sentido Incorreto; Sinais de Exportação Nuclear/genética; Fenótipo

Palavras-chave

Autism spectrum disorders ASD; FMR1 point mutation; Fragile X syndrome; Intellectual disability ID; Nuclear export signal NES

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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