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
Ghasemi Firouzabadi S1, Vameghi R2, Kariminejad R3, Darvish H4, Banihashemi S1, Firouzkouhi Moghaddam M5, Jamali P6, Farbod Mofidi Tehrani H7, Dehghani H1, Raeisoon MR8, Narooie-Nejad M9, Jamshidi J10, Tafakhori A11, Sadabadi S12, Behjati F1.
Author information
- 1
- Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
- 2
- Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
- 3
- Kariminejad- Najmabadi Pathology and Genetics Center, Tehran, Iran.
- 4
- Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
- 5
- 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.
- 6
- Shahroud Welfare Organization, Shahroud, Iran.
- 7
- Health Psychology Department, Edalat University, Tehran, Iran.
- 8
- Psychiatry and Behavioral Science Research Center, Department of Social Medicine, Medicine Faculty, Birjand University of Medical Sciences, Birjand, Iran.
- 9
- Genetics of Non- Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
- 10
- Non-Communicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran.
- 11
- Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.
- 12
- Bahar ducation and Rehabilitation Center for the handicapped, Tehran, Iran.
Abstract
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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