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  SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

Garshasbi, M., Motazacker, M. M., Kahrizi, K., Behjati, F., Abedini, S. S., Nieh, S. E., et al. (2006). SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Human Genetics, 118(6), 708-715. doi:10.1007/s00439-005-0104-y.

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Genre: Journal Article
Alternative Title : Hum Genet.

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 Creators:
Garshasbi, Masoud1, Author              
Motazacker, Mohammad Mahdi2, Author
Kahrizi, Kimia, Author
Behjati, Farkhondeh, Author
Abedini, Seyedeh Sedigheh, Author
Nieh, Sahar Esmaeeli, Author
Firouzabadi, Saghar Ghasemi, Author
Becker, Christian, Author
Rüschendorf, Franz, Author
Nürnberg, Peter, Author
Tzschach, Andreas1, Author              
Vazifehmand, Reza, Author
Erdogan, Fikret1, Author              
Ullmann, Reinhard3, Author              
Lenzner, Steffen2, Author
Kuss, Andreas W.4, Author              
Ropers, Hans-Hilger1, Author              
Najmabadi, Hossein, Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Max Planck Society, ou_persistent13              
3Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
4Familial 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: Very little is known about the molecular basis of autosomal recessive MR (ARMR) because in developed countries, small family sizes preclude mapping and identification of the relevant gene defects. We therefore chose to investigate genetic causes of ARMR in large consanguineous Iranian families. This study reports on a family with six mentally retarded members. Array-based homozygosity mapping and high-resolution microarray-based comparative genomic hybridization (array CGH) revealed a deletion of approximately 150–200 kb, encompassing the promoter and the first six exons of the MCPH1 gene, one out of four genes that have been previously implicated in ARMR with microcephaly. Reexamination of affected individuals revealed a high proportion of prematurely condensed chromosomes, which is a hallmark of this condition, but in spite of the severity of the mutation, all patients showed only borderline to mild microcephaly. Therefore the phenotypic spectrum of MCPH1 mutations may be wider than previously assumed, with ARMR being the only consistent clinical finding.

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Language(s): eng - English
 Dates: 2006-02-01
 Publication Status: Published in print
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 Identifiers: eDoc: 307622
DOI: 10.1007/s00439-005-0104-y
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Title: Human Genetics
  Alternative Title : Hum Genet.
Source Genre: Journal
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Pages: - Volume / Issue: 118 (6) Sequence Number: - Start / End Page: 708 - 715 Identifier: ISSN: 0340-6717