title: A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly.
abstract: Primary microcephaly (MCPH) is a genetic disorder in which affected individuals present with a head circumference 3 standard deviations (SDs) below the age- and sex-related mean and is accompanied by mental retardation without further associated malformations. Here we report a patient with sporadic MCPH from Northwest of Iran who was investigated for MCPH1 locus. Clinical examination and karyotype analyses were performed and microsatellite based mapping was done by using flanking and intragenic short tandem repeat (STR) markers for MCPH1 locus. For these markers the affected individual was homozygote and the parents were heterozygote. According to this pattern of allele sharing and also the cytogenetic findings, mutation screening of Microcephalin gene was performed and subsequent sequencing revealed a novel mutation in Microcephalin gene.
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Miss Masoumeh
authors.initials: MM
authors.lastname: Hosseini
authors.forename: Seyed Hassan
authors.initials: SH
authors.lastname: Tonekaboni
authors.forename: Elaheh
authors.initials: E
authors.lastname: Papari
authors.forename: Idea
authors.initials: I
authors.lastname: Bahman
authors.forename: Farkhondeh
authors.initials: F
authors.lastname: Behjati
authors.forename: Kimia
authors.initials: K
authors.lastname: Kahrizi
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
mesh_terms: D018797:Cell Cycle Proteins; D002675:Child, Preschool; D018389:Codon, Nonsense; D003598:Cytoskeletal Proteins; D005260:Female; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007492:Iran; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D018895:Microsatellite Repeats; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: D018797:Cell Cycle Proteins; D018389:Codon, Nonsense; D003598:Cytoskeletal Proteins; C460645:MCPH1 protein, human; D009419:Nerve Tissue Proteins