Genetic analysis in egyptian children with autistic spectrum disorders / Dina Mohamed Eltabei ; Supervised Ola Omar Shahin , Vishwajit L Nimgaonkar , Amany Ahmed Abdou

Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Neuropsychiatry

Aim: To find out whether chromosomal changes and genetic mutations are increased among children affected with ASD, to find if these mutations are de novo or inherited from the parents and to find if certain mutations are responsible for specific clinical manifestations. Method: Thirty three families were recruited from Cairo University hospitals along one year and eight months. All participants were assessed using Autism Diagnostic Interview, Vineland social maturity scale and Social communication questionnaire. We did laboratory analyses on two stages: Array Comparative genomic hybridization then we expanded our analysis using the illumina platform for the rest of the sample. Results: Inherited CNVs accounted for 85% of detected CNVs while de novo accounted for 15% in affected Children in our sample. Children having de novo CNVs had higher scores on the stereotyped patterns of behaviors. Children with duplications had symptoms evident before 36 months. Most of the mothers (65%) carried both deletions and duplications. We also reported an inbred family with 3 siblings having ASD. Mother as well as 2 of the affected children carry the 15q11.2-q13 duplication. Conclusion: Multiple forms of genetic variation{u2014}inherited and de novo, influence human phenotypes. Transmitted, copy number variants (CNVs), such as 15q11.2{u2013}q13 duplication has been found to contribute to ASD

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