Aperçu: G.M.
Le
trouble du spectre de l'autisme (TSA) se caractérise par des
comportements rituels répétitifs et une communication verbale / non
verbale altérée. Beaucoup de gènes de sensibilité aux TSA impliqués dans les voies neuronales / développement du cerveau ont été identifiés. La
population libanaise est idéale pour découvrir des gènes récessifs en
raison de l'ascendance partagée et d'un taux élevé de mariages
consanguins.
Bien
qu'une légère augmentation du nombre ait été observée chez les personnes avec un diagnostic de TSA et les membres de la famille par rapport aux témoins,
il n'y avait pas de différences significatives dans les fréquences
alléliques entre les personnes avec un diagnostic de TSA et les témoins (C / TTCTG:
valeur γ2 = 0,014; p = 0,904).
Le polymorphisme CNTNAP2 identifié dans cette population, par conséquent, n'est pas lié au phénotype TSA.
Sci Rep. 2017 Mar 30;7:45336. doi: 10.1038/srep45336.
Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population
Kourtian S1,2, Soueid J1, Makhoul NJ1, Guisso DR1, Chahrour M3, Boustany RN1,4.
Author information
- 1
- American University of Beirut Medical Center Special Kids Clinic, Neurogenetics Program and Division of Pediatric Neurology, Lebanon.
- 2
- Department of Biological and Environmental Sciences, Faculty of Science, Beirut Arab University, Lebanon.
- 3
- Eugene McDermott Center for Human Growth and Development, Departments of Neuroscience and Psychiatry, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
- 4
- Biochemistry and Molecular Genetics, American university of Beirut, Lebanon.
Abstract
Autism spectrum disorder
(ASD) is characterized by ritualistic-repetitive behaviors and impaired
verbal/non-verbal communication. Many ASD susceptibility genes
implicated in neuronal pathways/brain development have been identified.
The Lebanese population is ideal for uncovering recessive genes because
of shared ancestry and a high rate of consanguineous marriages. Aims
here are to analyze for published ASD genes and uncover novel inherited
ASD susceptibility genes specific to the Lebanese. We recruited 36 ASD
families (ASD: 37, unaffected parents: 36, unaffected siblings: 33) and
100 unaffected Lebanese controls. Cytogenetics 2.7 M
Microarrays/CytoScan™ HD arrays allowed mapping of homozygous regions of
the genome. The CNTNAP2 gene was screened by Sanger sequencing.
Homozygosity mapping uncovered DPP4, TRHR, and MLF1 as novel candidate
susceptibility genes for ASD in the Lebanese. Sequencing of hot spot
exons in CNTNAP2 led to discovery of a 5 bp insertion in 23/37 ASD
patients. This mutation was present in unaffected family members and
unaffected Lebanese controls. Although a slight increase in number was
observed in ASD patients and family members compared to controls, there
were no significant differences in allele frequencies between affecteds
and controls (C/TTCTG: γ2 value = 0.014; p = 0.904). The CNTNAP2 polymorphism identified in this population, hence, is not linked to the ASD phenotype.
- PMID: 28358038
- DOI: 10.1038/srep45336
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