22q11.2 deletion syndrome in diverse populations.
| Title: | 22q11.2 deletion syndrome in diverse populations. |
|---|---|
| Authors: | Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; McGinn DE; Division of Human Genetics, 22q and You Center, and Clinical Genetics Center, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Porras AR; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, D.C.; Biggs E; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, D.C.; Share M; Division of Human Genetics, 22q and You Center, and Clinical Genetics Center, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Crowley TB; Division of Human Genetics, 22q and You Center, and Clinical Genetics Center, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Chung BH; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.; Mok GT; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.; Mak CC; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.; Muthukumarasamy P; Faculty of Medicine, Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia.; Thong MK; Faculty of Medicine, Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia.; Sirisena ND; Faculty of Medicine, Human Genetics Unit, University of Colombo, Sri Lanka.; Dissanayake VH; Faculty of Medicine, Human Genetics Unit, University of Colombo, Sri Lanka.; Paththinige CS; Faculty of Medicine, Human Genetics Unit, University of Colombo, Sri Lanka.; Prabodha LB; Faculty of Medicine, Human Genetics Unit, University of Colombo, Sri Lanka.; Mishra R; Faculty of Medicine, Human Genetics Unit, University of Colombo, Sri Lanka.; Shotelersuk V; Center of Excellence for Medical Genetics, Faculty of Medicine, Department of Pediatrics, Chulalongkorn University, Bangkok, Thailand.; Ekure EN; Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching, Lagos, Nigeria.; Sokunbi OJ; Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching, Lagos, Nigeria.; Kalu N; Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching, Lagos, Nigeria.; Ferreira CR; Division of Genetics and Metabolism, Children's National Health System, Washington, D.C.; Duncan JM; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Patil SJ; Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India.; Jones KL; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.; Kaplan JD; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.; Abdul-Rahman OA; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.; Uwineza A; Center of Human Genetics/School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.; Mutesa L; Center of Human Genetics/School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.; Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.; Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.; Richieri-Costa A; Hospital for the Rehabilitation of Craniofacial Anomalies, São Paulo University, Bauru, Brazil.; Gil-da-Silva-Lopes VL; Department of Medical Genetics, University of Campinas, São Paulo, Brazil.; Adeyemo AA; Center for Research on Genomics and Global Health, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Summar M; Division of Genetics and Metabolism, Children's National Health System, Washington, D.C.; Zackai EH; Division of Human Genetics, 22q and You Center, and Clinical Genetics Center, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; McDonald-McGinn DM; Division of Human Genetics, 22q and You Center, and Clinical Genetics Center, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Linguraru MG; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, D.C.; Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2017 Apr; Vol. 173 (4), pp. 879-888. |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Imprint Name(s): | Publication: Hoboken, N.J. : Wiley-Blackwell; Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
| MeSH Terms: | Biometric Identification/*methods ; DiGeorge Syndrome/*diagnosis ; Heart Defects, Congenital/*diagnosis ; Image Interpretation, Computer-Assisted/*methods ; Learning Disabilities/*diagnosis; Chromosomes, Human, Pair 22/chemistry ; DiGeorge Syndrome/ethnology ; DiGeorge Syndrome/genetics ; DiGeorge Syndrome/pathology ; Heart Defects, Congenital/ethnology ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/pathology ; Learning Disabilities/ethnology ; Learning Disabilities/genetics ; Learning Disabilities/physiopathology ; Adolescent ; Adult ; Asian People ; Black People ; Child ; Child, Preschool ; Facies ; Female ; Hispanic or Latino ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Infant, Newborn ; Male ; Phenotype ; White People |
| Abstract: | 22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images from 101 were collected from individuals with 22q11.2 DS from 11 countries; average age was 11.7 and 47% were male. Individuals were grouped into categories of African descent (African), Asian, and Latin American. We found that the phenotype of 22q11.2 DS varied across population groups. Only two findings, congenital heart disease and learning problems, were found in greater than 50% of participants. When comparing the clinical features of 22q11.2 DS in each population, the proportion of individuals within each clinical category was statistically different except for learning problems and ear anomalies (P |
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| Grant Information: | P01 HD070454 United States HD NICHD NIH HHS; U01 MH087636 United States MH NIMH NIH HHS; U01 MH101720 United States MH NIMH NIH HHS; Z99 HG999999 United States ImNIH Intramural NIH HHS |
| Contributed Indexing: | Keywords: 22q11.2 Deletion syndrome; DiGeorge syndrome; Velocardiofacial Syndrome; diverse populations; facial analysis technology |
| Entry Date(s): | Date Created: 20170323 Date Completed: 20171030 Latest Revision: 20250530 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC5363275 |
| DOI: | 10.1002/ajmg.a.38199 |
| PMID: | 28328118 |
| Database: | MEDLINE |
Journal Article