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Repository of Research and Investigative Information

Zahedan University of Medical Sciences

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

(2010) A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. Journal of Medical Genetics. pp. 823-828. ISSN 0022-2593

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Official URL: <Go to ISI>://WOS:000285685900006

Abstract

Background Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance. Affected individuals present with head circumferences more than three SDs below the age-and sex-matched population mean, associated with mild to severe mental retardation. Five genes (MCPH1, CDK5RAP2, ASPM, CENPJ, STIL) and two genomic loci, MCPH2 and MCPH4, have been identified so far. Methods and results In this study, we investigated all seven MCPH loci in patients with primary microcephaly from 112 Consanguineous Iranian families. In addition to a thorough clinical characterisation, karyotype analyses were performed for all patients. For Homozygosity mapping, microsatellite markers were selected for each locus and used for genotyping. Our investigation enabled us to detect homozygosity at MCPH1 (Microcephalin) in eight families, at MCPH5 (ASPM) in thirtheen families. Three families showed homozygosity at MCPH2 and five at MCPH6 (CENPJ), and two families were linked to MCPH7 (STIL). The remaining 81 families were not linked to any of the seven known loci. Subsequent sequencing revealed eight, 10 and one novel mutations in Microcephalin, ASPM and CENPJ, respectively. In some families, additional features such as short stature, seizures or congenital hearing loss were observed in the microcephalic patient, which widens the spectrum of clinical manifestations of mutations in known microcephaly genes. `Conclusion Our results show that the molecular basis of microcephaly is heterogeneous; thus, the Iranian population may provide a unique source for the identification of further genes underlying this disorder.

Item Type: Article
Keywords: aspm mutations centrosomal protein mental-retardation brain size maps locus deletion mcph5 Genetics & Heredity
Page Range: pp. 823-828
Journal or Publication Title: Journal of Medical Genetics
Journal Index: ISI
Volume: 47
Number: 12
Identification Number: https://doi.org/10.1136/jmg.2009.076398
ISSN: 0022-2593
Depositing User: خانم مهدیه رضائی پور
URI: http://eprints.zaums.ac.ir/id/eprint/2734

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