Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population

Silva Kourtian, Jihane Soueid, Nadine J. Makhoul, Dikran Richard Guisso, Maria Chahrour, Rose Mary N. Boustany

Research output: Contribution to journalArticle

2 Citations (Scopus)

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.

Original languageEnglish (US)
Article number45336
JournalScientific Reports
Volume7
DOIs
StatePublished - Mar 30 2017

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Autistic Disorder
Population
Genes
Autism Spectrum Disorder
Verbal Behavior
Recessive Genes
Marriage
Gene Frequency
Cytogenetics
Siblings
Exons
Parents
Communication
Genome
Phenotype
Mutation
Brain

ASJC Scopus subject areas

  • General

Cite this

Kourtian, S., Soueid, J., Makhoul, N. J., Guisso, D. R., Chahrour, M., & Boustany, R. M. N. (2017). Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population. Scientific Reports, 7, [45336]. https://doi.org/10.1038/srep45336

Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population. / Kourtian, Silva; Soueid, Jihane; Makhoul, Nadine J.; Guisso, Dikran Richard; Chahrour, Maria; Boustany, Rose Mary N.

In: Scientific Reports, Vol. 7, 45336, 30.03.2017.

Research output: Contribution to journalArticle

Kourtian, Silva ; Soueid, Jihane ; Makhoul, Nadine J. ; Guisso, Dikran Richard ; Chahrour, Maria ; Boustany, Rose Mary N. / Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population. In: Scientific Reports. 2017 ; Vol. 7.
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