title: Homozygosity analysis in subjects with autistic spectrum disorder.
abstract: Autistic spectrum disorder (ASD) is a complex neurodevelopmental disorder that results in social and communication impairments, as well as repetitive and stereotyped patterns. Genetically, ASD has been described as a multifactorial genetic disorder. The aim of the present study was to investigate possible susceptibility loci of ASD, utilizing the highly consanguineous and inbred nature of numerous families within the population of Saudi Arabia. A total of 13 multiplex families and 27 affected individuals were recruited and analyzed using Affymetrix GeneChip(®) Mapping 250K and 6.0 arrays as well as Axiom arrays. Numerous regions of homozygosity were identified, including regions in genes associated with synaptic function and neurotransmitters, as well as energy and mitochondria-associated genes, and developmentally-associated genes. The loci identified in the present study represent regions that may be further investigated, which could reveal novel changes and variations associated with ASD, reinforcing the complex inheritance of the disease.
authors.affiliation: Behavioral Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Adi
authors.affiliation: Behavioral Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
authors.forename: Basma
authors.initials: B
authors.lastname: Tawil
authors.affiliation: Center for Autism Research, King Faisal Specialist Hospital, Riyadh 11211, Saudi Arabia.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Aldosari
authors.affiliation: Behavioral Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
authors.forename: Jameela
authors.initials: J
authors.lastname: Shinwari
authors.affiliation: Center for Autism Research, King Faisal Specialist Hospital, Riyadh 11211, Saudi Arabia.
authors.forename: Michael
authors.initials: M
authors.lastname: Nester
authors.affiliation: Center for Autism Research, King Faisal Specialist Hospital, Riyadh 11211, Saudi Arabia.
authors.forename: Hisham
authors.initials: H
authors.lastname: Aldhalaan
authors.affiliation: Center for Autism Research, King Faisal Specialist Hospital, Riyadh 11211, Saudi Arabia.
authors.forename: Hussain
authors.initials: H
authors.lastname: Alshamrani
authors.affiliation: Center for Autism Research, King Faisal Specialist Hospital, Riyadh 11211, Saudi Arabia.
authors.forename: Manar
authors.initials: M
authors.lastname: Ghannam
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
authors.forename: Brian
authors.initials: B
authors.lastname: Meyer
authors.affiliation: Behavioral Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
authors.forename: Nada
authors.initials: N
authors.lastname: Al Tassan
mesh_terms: D000067877:Autism Spectrum Disorder / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002874:Chromosome Mapping; D003241:Consanguinity; D005260:Female; D018507:Gene Expression Regulation, Developmental; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006720:Homozygote; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D046228:Microarray Analysis; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D012529:Saudi Arabia; D009435:Synaptic Transmission / Q000235:genetics