An autosomal recessive syndrome of severe mental retardation, cataract, 
coloboma and kyphosis maps to the pericentromeric region of chromosome 4

Kahrizi, Kimia; Najmabadi, Hossein; Kariminejad, Roxana; Jamali, Payman; Malekpour, Mahdi; Garshasbi, Masoud; Ropers, Hans-Hilger; Kuss, Andreas Walter; Tzschach, Andreas

doi:10.1038/ejhg.2008.159

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An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

Kahrizi, K., Najmabadi, H., Kariminejad, R., Jamali, P., Malekpour, M., Garshasbi, M., et al. (2009). An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4. European Journal of Human Genetics, 17(1), 125-128. doi:10.1038/ejhg.2008.159.

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Datensatz-Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-7E4F-C Versions-Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-7E50-6

Genre: Zeitschriftenartikel

Alternativer Titel : Eur J Hum Genet

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Urheber:
Kahrizi, Kimia, Autor
Najmabadi, Hossein, Autor
Kariminejad, Roxana, Autor
Jamali, Payman, Autor
Malekpour, Mahdi, Autor
Garshasbi, Masoud¹, Autor
Ropers, Hans-Hilger¹, Autor
Kuss, Andreas Walter², Autor
Tzschach, Andreas¹, Autor

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

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Zusammenfassung: We report on three siblings with a novel mental retardation (MR) syndrome who were born to distantly related Iranian parents. The clinical problems comprised severe MR, cataracts with onset in late adolescence, kyphosis, contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. Two patients also had uni- or bilateral iris coloboma. Linkage analysis revealed a single 10.4 Mb interval of homozygosity with significant LOD score in the pericentromeric region of chromosome 4 flanked by SNPs rs728293 (4p12) and rs1105434 (4q12). This interval contains more than 40 genes, none of which has been implicated in MR so far. The identification of the causative gene defect for this syndrome will provide new insights into the development of the brain and the eye.