Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population

被引：10

作者：

Al-Mamari, Watfa ^{[1
]}

Al-Saegh, Abeer ^{[1
]}

Al-Kindy, Adila ^{[1
]}

Bruwer, Zandre ^{[1
]}

Al-Murshedi, Fathiya ^{[1
]}

Al-Thihli, Khalid ^{[1
]}

机构：

[1] Sultan Qaboos Univ Hosp, Dept Genet, Coll Med, Genet & Dev Med Clin, Muscat 123, Oman

来源：

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS | 2015年 / 45卷 / 08期

关键词：

Autism; Autism spectrum disorders; Chromosomal microarray; Array-CGH; Diagnostic yield; Consanguinity; DEVELOPMENTAL-DISABILITIES; MOLECULAR CHARACTERIZATION; FISH ANALYSIS; EPIDEMIOLOGY; INDIVIDUALS; DEFICIENCY; DELETION; GENETICS;

D O I：

10.1007/s10803-015-2394-9

中图分类号：

B844 [发展心理学（人类心理学）];

学科分类号：

040206 [发展心理学];

摘要：

Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients referred to the Genetic and Developmental Medicine clinic in Sultan Qaboos University in Oman for autism spectrum disorders in a highly consanguineous population. Copy number variants were seen in 27 % of our studied cohort of patients and it was strongly associated with dysmorphic features and congenital anomalies.

引用

页码：2323 / 2328

页数：6

共 19 条

[1]

Consanguinity, Endogamy and Inborn Errors of Metabolism in Oman: A Cross-Sectional Study [J].

Al-Thihli, Khalid ;

Al-Murshedi, Fathiya ;

Al-Hashmi, Nadia ;

Al-Mamari, Watfa ;

Islam, M. Mazharul ;

Al-Yahyaee, Said A. .

HUMAN HEREDITY, 2014, 77 (1-4) :183-188

[2]

Autism and phenylketonuria [J].

Baieli, S ;

Pavone, L ;

Meli, C ;

Fiumara, A ;

Coleman, M .

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 2003, 33 (02) :201-204

[3]

The yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders [J].

Battaglia, A ;

Bonaglia, MC .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2006, 142C (01) :8-12

[4]

Curran Sarah, 2013, J Mol Psychiatry, V1, P4, DOI 10.1186/2049-9256-1-4

[5]

Investigation of NRXN1 deletions: Clinical and molecular characterization [J].

Dabell, Mindy Preston ;

Rosenfeld, Jill A. ;

Bader, Patricia ;

Escobar, Luis F. ;

El-Khechen, Dima ;

Vallee, Stephanie E. ;

Dinulos, Mary Beth Palko ;

Curry, Cynthia ;

Fisher, Jamie ;

Tervo, Raymond ;

Hannibal, Mark C. ;

Siefkas, Kiana ;

Wyatt, Philip R. ;

Hughes, Lauren ;

Smith, Rosemarie ;

Ellingwood, Sara ;

Lacassie, Yves ;

Stroud, Tracy ;

Farrell, Sandra A. ;

Sanchez-Lara, Pedro A. ;

Randolph, Linda M. ;

Niyazov, Dmitriy ;

Stevens, Cathy A. ;

Schoonveld, Cheri ;

Skidmore, David ;

MacKay, Sara ;

Miles, Judith H. ;

Moodley, Manikum ;

Huillet, Adam ;

Neill, Nicholas J. ;

Ellison, Jay W. ;

Ballif, Blake C. ;

Shaffer, Lisa G. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (04) :717-731

[6]

Fombonne E, 2005, J CLIN PSYCHIAT, V66, P3

[7]

The genetics of autistic disorders and its clinical relevance: a review of the literature [J].

Freitag, C. M. .

MOLECULAR PSYCHIATRY, 2007, 12 (01) :2-22

[8]

Intellectual Disability Is Associated with Increased Runs of Homozygosity in Simplex Autism [J].

Gamsiz, Ece D. ;

Viscidi, Emma W. ;

Frederick, Abbie M. ;

Nagpal, Shailender ;

Sanders, Stephan J. ;

Murtha, Michael T. ;

Schmidt, Michael ;

Triche, Elizabeth W. ;

Geschwind, Daniel H. ;

State, Matthew W. ;

Istrail, Sorin ;

Cook, Edwin H., Jr. ;

Devlin, Bernie ;

Morrow, Eric M. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 93 (01) :103-109

[9]

ZNF674:: A new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation [J].

Lugtenberg, D ;

Yntema, HG ;

Banning, MJG ;

Oudakker, AR ;

Firth, HV ;

Willatt, L ;

Raynaud, M ;

Kleefstra, T ;

Fryns, JP ;

Ropers, HH ;

Chelly, J ;

Moraine, C ;

Gécz, J ;

van Reeuwijk, J ;

Nabuurs, SB ;

de Vries, BBA ;

Hamel, BCJ ;

de Brouwer, APM ;

van Bokhoven, H .

AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (02) :265-278

[10]

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies [J].

Miller, David T. ;

Adam, Margaret P. ;

Aradhya, Swaroop ;

Biesecker, Leslie G. ;

Brothman, Arthur R. ;

Carter, Nigel P. ;

Church, Deanna M. ;

Crolla, John A. ;

Eichler, Evan E. ;

Epstein, Charles J. ;

Faucett, W. Andrew ;

Feuk, Lars ;

Friedman, Jan M. ;

Hamosh, Ada ;

Jackson, Laird ;

Kaminsky, Erin B. ;

Kok, Klaas ;

Krantz, Ian D. ;

Kuhn, Robert M. ;

Lee, Charles ;

Ostell, James M. ;

Rosenberg, Carla ;

Scherer, Stephen W. ;

Spinner, Nancy B. ;

Stavropoulos, Dimitri J. ;

Tepperberg, James H. ;

Thorland, Erik C. ;

Vermeesch, Joris R. ;

Waggoner, Darrel J. ;

Watson, Michael S. ;

Martin, Christa Lese ;

Ledbetter, David H. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (05) :749-764

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