Author/Authors :
Hosseini, Masoumeh university of social welfare and rehabilitation sciences - Genetics Research Center, ايران , Tonekaboni, Hassan shahid beheshti university of medical sciences - Mofid Children Hospital - Neurology Department, تهران, ايران , Papari, Elaheh university of social welfare and rehabilitation sciences - Genetics Research Center, ايران , Bahman, Idea university of social welfare and rehabilitation sciences - Genetics Research Center, ايران , Behjati, Farkhondeh university of social welfare and rehabilitation sciences - Genetics Research Center, ايران , Kahrizi, Kimia university of social welfare and rehabilitation sciences - Genetics Research Center, ايران , Najmabadi, Hossein university of social welfare and rehabilitation sciences - Genetics Research Center, ايران
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
Keywords :
Primary Microcephaly , Mental retardation , Novel mutation , Iran
