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Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
Bishop, Madison R; Diaz Perez, Kimberly K; Sun, Miranda; Ho, Samantha; Chopra, Pankaj; Mukhopadhyay, Nandita; Hetmanski, Jacqueline B; Taub, Margaret A; Moreno-Uribe, Lina M; Valencia-Ramirez, Luz Consuelo; Restrepo Muñeton, Claudia P; Wehby, George; Hecht, Jacqueline T; Deleyiannis, Frederic; Weinberg, Seth M; Wu-Chou, Yah Huei; Chen, Philip K; Brand, Harrison; Epstein, Michael P; Ruczinski, Ingo; Murray, Jeffrey C; Beaty, Terri H; Feingold, Eleanor; Lipinski, Robert J; Cutler, David J; Marazita, Mary L; Leslie, Elizabeth J.
Afiliação
  • Bishop MR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Diaz Perez KK; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Sun M; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin, Madison, WI 53706, USA.
  • Ho S; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Chopra P; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Mukhopadhyay N; Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA.
  • Hetmanski JB; Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.
  • Taub MA; Department of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.
  • Moreno-Uribe LM; Department of Orthodontics, College of Dentistry, University of Iowa, Iowa City, IA 52242, USA.
  • Valencia-Ramirez LC; Fundación Clínica Noel, Carrera 50 # 63-131, Medellín, Colombia.
  • Restrepo Muñeton CP; Fundación Clínica Noel, Carrera 50 # 63-131, Medellín, Colombia.
  • Wehby G; Department of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA 52242, USA.
  • Hecht JT; Department of Pediatrics, McGovern Medical School and School of Dentistry, UT Health at Houston, Houston, TX 77030, USA.
  • Deleyiannis F; UCHealth Plastic and Reconstructive Surgery, Colorado Springs, CO 80907, USA.
  • Weinberg SM; Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA.
  • Wu-Chou YH; Department of Medical Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
  • Chen PK; Craniofacial Centre, Taipei Medical University Hospital and Taipei Medical University, Taipei, Taiwan.
  • Brand H; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
  • Epstein MP; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Ruczinski I; Department of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.
  • Murray JC; Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
  • Beaty TH; Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.
  • Feingold E; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA.
  • Lipinski RJ; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin, Madison, WI 53706, USA.
  • Cutler DJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Marazita ML; Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA.
  • Leslie EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address: ejlesli@emory.edu.
Am J Hum Genet ; 107(1): 124-136, 2020 07 02.
Article em En | MEDLINE | ID: mdl-32574564
ABSTRACT
Although de novo mutations (DNMs) are known to increase an individual's risk of congenital defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the most common human birth defects. Therefore, whole-genome sequencing of 756 child-parent trios of European, Colombian, and Taiwanese ancestry was performed to determine the contributions of coding DNMs to an individual's OFC risk. Overall, we identified a significant excess of loss-of-function DNMs in genes highly expressed in craniofacial tissues, as well as genes associated with known autosomal dominant OFC syndromes. This analysis also revealed roles for zinc-finger homeobox domain and SOX2-interacting genes in OFC etiology.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenda Labial / Fissura Palatina / Predisposição Genética para Doença / Mutação Limite: Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenda Labial / Fissura Palatina / Predisposição Genética para Doença / Mutação Limite: Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article