Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

Lelieveld, Stefan H; Reijnders, Margot R F; Pfundt, Rolph; Yntema, Helger G; Kamsteeg, Erik-Jan; de Vries, Petra; de Vries, Bert B A; Willemsen, Marjolein H; Kleefstra, Tjitske; Löhner, Katharina; Vreeburg, Maaike; Stevens, Servi J C; van der Burgt, Ineke; Bongers, Ernie M H F; Stegmann, Alexander P A; Rump, Patrick; Rinne, Tuula; Nelen, Marcel R; Veltman, Joris A; Vissers, Lisenka E L M; Brunner, Han G; Gilissen, Christian

Lelieveld, Stefan H; Reijnders, Margot R F; Pfundt, Rolph; Yntema, Helger G; Kamsteeg, Erik-Jan; de Vries, Petra; de Vries, Bert B A; Willemsen, Marjolein H; Kleefstra, Tjitske; Löhner, Katharina; Vreeburg, Maaike; Stevens, Servi J C; van der Burgt, Ineke; Bongers, Ernie M H F; Stegmann, Alexander P A; Rump, Patrick; Rinne, Tuula; Nelen, Marcel R; Veltman, Joris A; Vissers, Lisenka E L M; Brunner, Han G; Gilissen, Christian.

Afiliación

Lelieveld SH; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Reijnders MR; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Pfundt R; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Yntema HG; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Kamsteeg EJ; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
de Vries P; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
de Vries BB; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Willemsen MH; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Kleefstra T; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Löhner K; Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands.
Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.
Stevens SJ; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.
van der Burgt I; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Bongers EM; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Stegmann AP; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.
Rump P; Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands.
Rinne T; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Nelen MR; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Veltman JA; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Vissers LE; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.
Brunner HG; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Gilissen C; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.

Nat Neurosci ; 19(9): 1194-6, 2016 09.

Article en En | MEDLINE | ID: mdl-27479843

ABSTRACT

ABSTRACT

To identify candidate genes for intellectual disability, we performed a meta-analysis on 2,637 de novo mutations, identified from the exomes of 2,104 patient-parent trios. Statistical analyses identified 10 new candidate ID genes DLG4, PPM1D, RAC1, SMAD6, SON, SOX5, SYNCRIP, TCF20, TLK2 and TRIP12. In addition, we show that these genes are intolerant to nonsynonymous variation and that mutations in these genes are associated with specific clinical ID phenotypes.

Asunto(s)

Discapacidad Intelectual/genética; Mutación/genética; Proteínas Portadoras/genética; Proteínas de Unión al ADN/genética; Homólogo 4 de la Proteína Discs Large; Exoma/genética; Ribonucleoproteínas Nucleares Heterogéneas/genética; Humanos; Péptidos y Proteínas de Señalización Intracelular/genética; Proteínas de la Membrana/genética; Antígenos de Histocompatibilidad Menor/genética; Fenotipo; Proteínas Quinasas/genética; Proteína Fosfatasa 2C/genética; Factores de Transcripción SOXD/genética; Proteína smad6/genética; Factores de Transcripción/genética; Ubiquitina-Proteína Ligasas/genética; Proteína de Unión al GTP rac1/genética

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidad Intelectual / Mutación Tipo de estudio: Prognostic_studies / Systematic_reviews Límite: Humans Idioma: En Revista: Nat Neurosci Asunto de la revista: NEUROLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Países Bajos

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