01 avril 2017

Analyse des variations de nombre de copies chez les personnes avec un diagnostic d'autisme à l'aide de techniques cytogénétiques et MLPA: rapport sur les duplications 16p13.1p13.3 et 10q26.3

Aperçu: G.M.
L'autisme est un trouble neuropsychiatrique commun affectant 1 enfant sur 68. Les variations de nombre de copies (CNV) sont connues pour être des facteurs majeurs du trouble du spectre  de l'autisme. Dans cette étude, le carotypage et MLPA ont été utilisé pour détecter les VNC chez 50 personnes iraniennes avec un diagnostic de TSA.  
Les résultats suggèrent qu'il pourrait être possible d'obtenir des informations utiles en utilisant la technique MLPA mais ne peut pas être utilisé comme outil de diagnostic unique pour l'autisme.

Int J Mol Cell Med. 2016 Fall;5(4):236-245. Epub 2016 Dec 5.

Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications

Author information

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Kariminejad- Najmabadi Pathology and Genetics Center, Tehran, Iran.
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Child and Adolescent Psychiatry Department, Zahedan University of Medical Sciences, Zahedan, Iran.; Research Center for Children and Adolescents Health, Zahedan University of Medical Sciences, Zahedan, Iran.
Shahroud Welfare Organization, Shahroud, Iran.
Health Psychology Department, Edalat University, Tehran, Iran.
Psychiatry and Behavioral Science Research Center, Department of Social Medicine, Medicine Faculty, Birjand University of Medical Sciences, Birjand, Iran.
Genetics of Non- Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
Non-Communicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran.
Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.
Bahar ducation and Rehabilitation Center for the handicapped, Tehran, Iran.


Autism is a common neuropsychiatric disorder affecting 1 in 68 children. Copy number variations (CNVs) are known to be major contributors of autism spectrum disorder (ASD). There are different whole genome or targeted techniques to identify CNVs in the patients including karyotyping, multiplex ligation-dependent probe amplification (MLPA) and array CGH. In this study, we used karyotyping and MLPA to detect CNVs in 50 Iranian patients with autism. GTG banding and 4 different MLPA kits (2 subtelomeric and 2 autism kits) were utilized. To elevate our detection rate, we selected the sporadic patients who had additional clinical features including intellectual disability, seizure, attention deficit hyperactivity disorder, and abnormal head circumference. Two out of 50 patients (4%) showed microscopic chromosome abnormalities and 5 out of 50 (10%) demonstrated copy number gains or losses using MLPA kits. Including one overlapping result between karyotype and MLPA techniques, our overall detection rate was 6 out of 50 (12%). Three out of 6 CNVs were de novo and three others were paternally inherited. Two of CNVs detected by karyotyping and MLPA tests were 16p13.1q13.3 and 10q26.3 duplications, respectively. For these two CNVs genotype and phenotype of the patients were compared with other studies. Although the pathogenicity of cytogenetic results was certain, most of MLPA results needed to be better refined using other more accurate techniques such as array CGH. Our findings suggest that it might be possible to obtain some useful information using MLPA technique but it cannot be used as a single diagnostic tool for the autism.
PMID: 28357200

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