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

Darvish, H.., Nieh, S. E., Monajemi, G. B., Mohseni, M., Ghasemi-Firouzabadi, S., Abedini, S. S., et al. (2010). A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. Journal of Medical Genetics., 47(12), 823-828. doi:10.1136/jmg.2009.076398.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7A10-B Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7A11-9
Genre: Journal Article
Alternative Title : J. Med. Genet.

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Darvish, H. ., Author
Nieh, Sahar Esmaeeli1, Author
Monajemi, G. B., Author
Mohseni, M., Author
Ghasemi-Firouzabadi, S., Author
Abedini, S. S., Author
Bahman, I., Author
P Jamali, P., Author
Azimi, S., Author
Mojahedi, F., Author
Dehghan, A., Author
Shafeghati, Y., Author
Jankhah, A., Author
Falah, M., Author
Soltani Banavandi, M. J., Author
Ghani-Kakhi, M., Author
Garshasbi, M.2, Author              
Rakhshani, F., Author
Naghavi, A., Author
Tzschach, Andreas2, Author              
Neitzel, H., AuthorRopers, Hans-Hilger2, Author              Kuss, Andreas W.3, Author              Behjati, F., AuthorKahrizi, K., AuthorNajmabadi, Hossein, Author more..
Affiliations:
1Max Planck Society, ou_persistent13              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              

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 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.

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Language(s): eng - English
 Dates: 2010-10-26
 Publication Status: Published in print
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Title: Journal of Medical Genetics.
  Alternative Title : J. Med. Genet.
Source Genre: Journal
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Pages: - Volume / Issue: 47 (12) Sequence Number: - Start / End Page: 823 - 828 Identifier: ISSN: 0022-2593