A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

Helsmoortel, Céline; Vulto-van Silfhout, Anneke T; Coe, Bradley P; Vandeweyer, Geert; Rooms, Liesbeth; van den Ende, Jenneke; Schuurs-Hoeijmakers, Janneke H M; Marcelis, Carlo L; Willemsen, Marjolein H; Vissers, Lisenka E L M; Yntema, Helger G; Bakshi, Madhura; Wilson, Meredith; Witherspoon, Kali T; Malmgren, Helena; Nordgren, Ann; Annerén, Göran; Fichera, Marco; Bosco, Paolo; Romano, Corrado; de Vries, Bert B A; Kleefstra, Tjitske; Kooy, R Frank; Eichler, Evan E; Van der Aa, Nathalie

Helsmoortel, Céline; Vulto-van Silfhout, Anneke T; Coe, Bradley P; Vandeweyer, Geert; Rooms, Liesbeth; van den Ende, Jenneke; Schuurs-Hoeijmakers, Janneke H M; Marcelis, Carlo L; Willemsen, Marjolein H; Vissers, Lisenka E L M; Yntema, Helger G; Bakshi, Madhura; Wilson, Meredith; Witherspoon, Kali T; Malmgren, Helena; Nordgren, Ann; Annerén, Göran; Fichera, Marco; Bosco, Paolo; Romano, Corrado; de Vries, Bert B A; Kleefstra, Tjitske; Kooy, R Frank; Eichler, Evan E; Van der Aa, Nathalie.

Afiliação

Helsmoortel C; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Vulto-van Silfhout AT; 1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands. [2].
Coe BP; 1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA. [3].
Vandeweyer G; 1] Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. [2] Biomedical informatics research center Antwerpen (Biomina), Department of Mathematics and Computer Science, University of Antwerp, Edegem, Belgium.
Rooms L; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
van den Ende J; University Hospital Antwerp, Antwerp, Belgium.
Schuurs-Hoeijmakers JH; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands.
Marcelis CL; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands.
Willemsen MH; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands.
Vissers LE; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands.
Yntema HG; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands.
Bakshi M; Department of Genetic Medicine, Westmead Hospital, Sydney, Australia.
Wilson M; Department of Clinical Genetics, Children's Hospital at Westmead, Westmead, Australia.
Witherspoon KT; 1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA.
Malmgren H; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Nordgren A; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Annerén G; Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden.
Fichera M; 1] Unit of Neurology, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy. [2] Medical Genetics, University of Catania, Catania, Italy.
Bosco P; Laboratory of Cytogenetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
Romano C; Unit of Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
de Vries BB; 1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands. [2] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherla
Kleefstra T; 1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands. [2] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherla
Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Eichler EE; 1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA.
Van der Aa N; 1] Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. [2] University Hospital Antwerp, Antwerp, Belgium.

Nat Genet ; 46(4): 380-4, 2014 Apr.

Article em En | MEDLINE | ID: mdl-24531329

ABSTRACT

ABSTRACT

Despite the high heritability of autism spectrum disorders (ASD), characterized by persistent deficits in social communication and interaction and restricted, repetitive patterns of behavior, interests or activities, a genetic diagnosis can be established in only a minority of patients. Known genetic causes include chromosomal aberrations, such as the duplication of the 15q11-13 region, and monogenic causes, as in Rett and fragile-X syndromes. The genetic heterogeneity within ASD is striking, with even the most frequent causes responsible for only 1% of cases at the most. Even with the recent developments in next-generation sequencing, for the large majority of cases no molecular diagnosis can be established. Here, we report ten patients with ASD and other shared clinical characteristics, including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a transcription factor involved in the SWI/SNF remodeling complex. We estimate this gene to be mutated in at least 0.17% of ASD cases, making it one of the most frequent ASD-associated genes known to date.

Assuntos

Anormalidades Múltiplas/genética; Transtornos Globais do Desenvolvimento Infantil/genética; Proteínas Cromossômicas não Histona/genética; Proteínas de Homeodomínio/genética; Proteínas do Tecido Nervoso/genética; Fatores de Transcrição/genética; Sequência de Bases; Códon sem Sentido/genética; Exoma/genética; Mutação da Fase de Leitura/genética; Componentes do Gene; Humanos; Dados de Sequência Molecular; Reação em Cadeia da Polimerase em Tempo Real; Análise de Sequência de DNA

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Anormalidades Múltiplas / Proteínas Cromossômicas não Histona / Transtornos Globais do Desenvolvimento Infantil / Proteínas de Homeodomínio / Proteínas do Tecido Nervoso Limite: Humans Idioma: En Revista: Nat Genet Ano de publicação: 2014 Tipo de documento: Article

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