title: A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly.
abstract: OBJECTIVE
  Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental and genetically heterogeneous disorder with decreased head circumference due to the abnormality in fetal brain growth. To date, nine loci and nine genes responsible for the situation have been identified. Mutations in the ASPM gene (MCPH5) is the most common cause of MCPH. The ASPM gene with 28 exons is essential for normal mitotic spindle function in embryonic neuroblasts.
  
  
  METHODS
  We have ascertained twenty-two consanguineous families with intellectual disability and different ethnic backgrounds from Iran. Ten out of twenty-two families showed primary microcephaly in clinical examination. We investigated MCPH5 locus using homozygosity mapping by microsatellite marker.
  
  
  RESULTS
  Sequence analysis of exon 8 revealed a deletion of nucleotide (T) in donor site of splicing site of ASPM in one family. The remaining nine families were not linked to any of the known loci .More investigation will be needed to detect the causative defect in these families.
  
  
  CONCLUSIONS
  [corrected] We detected a novel mutation in the donor splicing site of exon 8 of the ASPM gene. This deletion mutation can alter the ASPM transcript leading to functional impairment of the gene product.
authors.affiliation: Msc of human genetics, University of Social Welfare & Rehabilitation Sciences, Tehran, Iran.
authors.forename: Elinaz
authors.initials: E
authors.lastname: Akbariazar
authors.affiliation: Msc of human genetics, University of Social Welfare & Rehabilitation Sciences, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Ebrahimpour
authors.affiliation: Msc of human genetics, University of Social Welfare & Rehabilitation Sciences, Tehran, Iran.
authors.forename: Saeedeh
authors.initials: S
authors.lastname: Akbari
authors.affiliation: Bsc in Nursing, Genetics Research Center, University of Social Welfare & Rehabilitation Sciences, Tehran, Iran.
authors.forename: Sanaz
authors.initials: S
authors.lastname: Arzhanghi
authors.affiliation: Msc of human genetics, University of Social Welfare & Rehabilitation Sciences, Tehran, Iran.
authors.forename: Seydeh Sedigheh
authors.initials: SS
authors.lastname: Abedini
authors.affiliation: Professor of Molecular Biology, University of Social Welfare & Rehabilitation Sciences, Tehran, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.affiliation: Professor of Medical Genetics, Genetics Research Center, University of Social Welfare & Rehabilitation Sciences, Tehran, Iran.
authors.forename: Kimia
authors.initials: K
authors.lastname: Kahrizi
keywords: ASPM; Autosomal Recessive Primary Microcephaly; Homozygosity Mapping; MCPH5