Literature DB >> 25703031

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

Watfa Al-Mamari1, Abeer Al-Saegh, Adila Al-Kindy, Zandre Bruwer, Fathiya Al-Murshedi, Khalid Al-Thihli.   

Abstract

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.

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Year:  2015        PMID： 25703031     DOI： 10.1007/s10803-015-2394-9

Source DB:  PubMed          Journal:  J Autism Dev Disord        ISSN： 0162-3257


  19 in total

1.  Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.

Authors:  J B Ravnan; J H Tepperberg; P Papenhausen; A N Lamb; J Hedrick; D Eash; D H Ledbetter; C L Martin
Journal:  J Med Genet       Date:  2005-09-30       Impact factor: 6.318

2.  The yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders.

Authors:  Agatino Battaglia; Maria C Bonaglia
Journal:  Am J Med Genet C Semin Med Genet       Date:  2006-02-15       Impact factor: 3.908

3.  Consanguinity, endogamy and inborn errors of metabolism in Oman: a cross-sectional study.

Authors:  Khalid Al-Thihli; Fathiya Al-Murshedi; Nadia Al-Hashmi; Watfa Al-Mamari; M Mazharul Islam; Said A Al-Yahyaee
Journal:  Hum Hered       Date:  2014-07-29       Impact factor: 0.444

4.  A case of interstitial deletion of 10q25.2----q26.1.

Authors:  D E Rooney; K Williams; D V Coleman; A Habel
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

Review 5.  The genetics of autistic disorders and its clinical relevance: a review of the literature.

Authors:  C M Freitag
Journal:  Mol Psychiatry       Date:  2006-10-10       Impact factor: 15.992

Review 6.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

7.  ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.

Authors:  Dorien Lugtenberg; Helger G Yntema; Martijn J G Banning; Astrid R Oudakker; Helen V Firth; Lionel Willatt; Martine Raynaud; Tjitske Kleefstra; Jean-Pierre Fryns; Hans-Hilger Ropers; Jamel Chelly; Claude Moraine; Jozef Gecz; Jeroen van Reeuwijk; Sander B Nabuurs; Bert B A de Vries; Ben C J Hamel; Arjan P M de Brouwer; Hans van Bokhoven
Journal:  Am J Hum Genet       Date:  2005-12-29       Impact factor: 11.025

8.  Investigation of NRXN1 deletions: clinical and molecular characterization.

Authors:  Mindy Preston Dabell; Jill A Rosenfeld; Patricia Bader; Luis F Escobar; Dima El-Khechen; Stephanie E Vallee; Mary Beth Palko Dinulos; Cynthia Curry; Jamie Fisher; Raymond Tervo; Mark C Hannibal; Kiana Siefkas; Philip R Wyatt; Lauren Hughes; Rosemarie Smith; Sara Ellingwood; Yves Lacassie; Tracy Stroud; Sandra A Farrell; Pedro A Sanchez-Lara; Linda M Randolph; Dmitriy Niyazov; Cathy A Stevens; Cheri Schoonveld; David Skidmore; Sara MacKay; Judith H Miles; Manikum Moodley; Adam Huillet; Nicholas J Neill; Jay W Ellison; Blake C Ballif; Lisa G Shaffer
Journal:  Am J Med Genet A       Date:  2013-03-12       Impact factor: 2.802

9.  Autism and phenylketonuria.

Authors:  Sabrina Baieli; Lorenzo Pavone; Concetta Meli; Agata Fiumara; Mary Coleman
Journal:  J Autism Dev Disord       Date:  2003-04

10.  Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.

Authors:  Lisenka E L M Vissers; Bert B A de Vries; Kazutoyo Osoegawa; Irene M Janssen; Ton Feuth; Chik On Choy; Huub Straatman; Walter van der Vliet; Erik H L P G Huys; Anke van Rijk; Dominique Smeets; Conny M A van Ravenswaaij-Arts; Nine V Knoers; Ineke van der Burgt; Pieter J de Jong; Han G Brunner; Ad Geurts van Kessel; Eric F P M Schoenmakers; Joris A Veltman
Journal:  Am J Hum Genet       Date:  2003-11-18       Impact factor: 11.025
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  4 in total

Review 1.  Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.

Authors:  Jill A Rosenfeld; Ankita Patel
Journal:  J Pediatr Genet       Date:  2016-05-30

2.  CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder.

Authors:  Silvia Annunziata; Sara Bulgheroni; Stefano D'Arrigo; Silvia Esposito; Matilde Taddei; Veronica Saletti; Enrico Alfei; Francesca Luisa Sciacca; Ambra Rizzo; Chiara Pantaleoni; Daria Riva
Journal:  J Autism Dev Disord       Date:  2021-01-04

3.  Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders.

Authors:  Eleonora Napoli; Serena Russo; Laura Casula; Viola Alesi; Filomena Alessandra Amendola; Adriano Angioni; Antonio Novelli; Giovanni Valeri; Deny Menghini; Stefano Vicari
Journal:  J Autism Dev Disord       Date:  2018-02

4.  Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.

Authors:  Areerat Hnoonual; Weerin Thammachote; Thipwimol Tim-Aroon; Kitiwan Rojnueangnit; Tippawan Hansakunachai; Tasanawat Sombuntham; Rawiwan Roongpraiwan; Juthamas Worachotekamjorn; Jariya Chuthapisith; Suthat Fucharoen; Duangrurdee Wattanasirichaigoon; Nichara Ruangdaraganon; Pornprot Limprasert; Natini Jinawath
Journal:  Sci Rep       Date:  2017-09-21       Impact factor: 4.379
  4 in total

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