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De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Xia, Fan; Bainbridge, Matthew N; Tan, Tiong Yang; Wangler, Michael F; Scheuerle, Angela E; Zackai, Elaine H; Harr, Margaret H; Sutton, V Reid; Nalam, Roopa L; Zhu, Wenmiao; Nash, Margot; Ryan, Monique M; Yaplito-Lee, Joy; Hunter, Jill V; Deardorff, Matthew A; Penney, Samantha J; Beaudet, Arthur L; Plon, Sharon E; Boerwinkle, Eric A; Lupski, James R; Eng, Christine M; Muzny, Donna M; Yang, Yaping; Gibbs, Richard A.
Afiliación
  • Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Bainbridge MN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Tan TY; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia; Department of Pediatrics, University of Melbourne, Parkville VIC 3052, Australia.
  • Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Scheuerle AE; Tesserae Genetics, Dallas, TX 75230, USA.
  • Zackai EH; The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Harr MH; The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Nalam RL; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA.
  • Zhu W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Nash M; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.
  • Ryan MM; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.
  • Yaplito-Lee J; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.
  • Hunter JV; Texas Children's Hospital, Houston, TX 77030, USA.
  • Deardorff MA; The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Penney SJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Plon SE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Boerwinkle EA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, University of Texas Health Science Center, Houston, TX 77030, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: agibbs@bcm.edu.
Am J Hum Genet ; 94(5): 784-9, 2014 May 01.
Article en En | MEDLINE | ID: mdl-24791903
Clinical whole-exome sequencing (WES) for identification of mutations leading to Mendelian disease has been offered to the medical community since 2011. Clinically undiagnosed neurological disorders are the most frequent basis for test referral, and currently, approximately 25% of such cases are diagnosed at the molecular level. To date, there are approximately 4,000 "known" disease-associated loci, and many are associated with striking dysmorphic features, making genotype-phenotype correlations relatively straightforward. A significant fraction of cases, however, lack characteristic dysmorphism or clinical pathognomonic traits and are dependent upon molecular tests for definitive diagnoses. Further, many molecular diagnoses are guided by recent gene-disease association discoveries. Hence, there is a critical interplay between clinical testing and research leading to gene-disease association discovery. Here, we describe four probands, all of whom presented with hypotonia, intellectual disability, global developmental delay, and mildly dysmorphic facial features. Three of the four also had sleep apnea. Each was a simplex case without a remarkable family history. Using WES, we identified AHDC1 de novo truncating mutations that most likely cause this genetic syndrome.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndromes de la Apnea del Sueño / Proteínas de Unión al ADN / Trastornos del Desarrollo del Lenguaje / Discapacidad Intelectual / Hipotonía Muscular Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndromes de la Apnea del Sueño / Proteínas de Unión al ADN / Trastornos del Desarrollo del Lenguaje / Discapacidad Intelectual / Hipotonía Muscular Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos