Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology.

Lahbib, Saida; Leblond, Claire S; Hamza, Mariem; Regnault, Béatrice; Lemée, Laure; Mathieu, Alexandre; Jaouadi, Hager; Mkaouar, Rahma; Youssef-Turki, Ilhem Ben; Belhadj, Ahlem; Kraoua, Ichraf; Bourgeron, Thomas; Abdelhak, Sonia

Lahbib, Saida; Leblond, Claire S; Hamza, Mariem; Regnault, Béatrice; Lemée, Laure; Mathieu, Alexandre; Jaouadi, Hager; Mkaouar, Rahma; Youssef-Turki, Ilhem Ben; Belhadj, Ahlem; Kraoua, Ichraf; Bourgeron, Thomas; Abdelhak, Sonia.

Afiliação

Lahbib S; Biomedical Genomics and Oncogenetics Laboratory LR16IPT05, Université Tunis El Manar, Institut Pasteur de Tunis, 1002, Tunis, Tunisia. saidalahbib89@gmail.com.
Leblond CS; University of Tunis El Manar, Tunis, Tunisia. saidalahbib89@gmail.com.
Hamza M; Human Genetics and Cognitive Functions Unit, Institut Pasteur, 75015, Paris, France.
Regnault B; CNRS UMR3571, Genes, Synapses and Cognition, Institut Pasteur, 75015, Paris, France.
Lemée L; Paris Diderot University, Sorbonne Paris Cité, 75013, Paris, France.
Mathieu A; Faculty of Medicine of Tunis, University of Tunis El Manar, 1007 La Rabta, Tunis, Tunisia.
Jaouadi H; Child and Adolescent Psychiatry Department, Mongi Slim Hospital, 2046, Sidi Daoud, Tunisia.
Mkaouar R; Plateforme de Génotypage des Eucaryotes, Centre d'Innovation et Recherche Technologique (CITECH), Institut Pasteur, 75015, Paris, France.
Youssef-Turki IB; Plateforme de Génotypage des Eucaryotes, Centre d'Innovation et Recherche Technologique (CITECH), Institut Pasteur, 75015, Paris, France.
Belhadj A; Human Genetics and Cognitive Functions Unit, Institut Pasteur, 75015, Paris, France.
Kraoua I; CNRS UMR3571, Genes, Synapses and Cognition, Institut Pasteur, 75015, Paris, France.
Bourgeron T; Paris Diderot University, Sorbonne Paris Cité, 75013, Paris, France.
Abdelhak S; Biomedical Genomics and Oncogenetics Laboratory LR16IPT05, Université Tunis El Manar, Institut Pasteur de Tunis, 1002, Tunis, Tunisia.

J Appl Genet ; 60(1): 49-56, 2019 Feb.

Article em En | MEDLINE | ID: mdl-30284680

Assuntos

Transtorno do Espectro Autista/genética; Proteínas Ativadoras de GTPase/genética; Perda Auditiva/genética; Deficiência Intelectual/genética; Deleção de Sequência; Adolescente; Criança; Pré-Escolar; Cromossomos Humanos Par 2/genética; Feminino; Homozigoto; Humanos; Lactente; Masculino; Linhagem

Palavras-chave

Autism; CAPG; CNV; ELMOD3; Hearing loss; homozygous deletion

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deleção de Sequência / Proteínas Ativadoras de GTPase / Transtorno do Espectro Autista / Perda Auditiva / Deficiência Intelectual Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Appl Genet Assunto da revista: GENETICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Tunísia

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