Please use this identifier to cite or link to this item: http://scholarbank.nus.edu.sg/handle/10635/107869
Title: IDENTIFICATION AND CHARACTERIZATION OF THE GENETIC AETIOLOGY OF A RARE DISEASE KNOWN AS ORAL-FACIAL-DIGITAL SYNDROME TYPE II OR MOHR SYNDROME
Authors: MOHAMMAD ABDULLAH SALEEM AL-SHBOUL
Keywords: ASUN, OFD, Cilia, Ciliopathy, Mohr, Xenopus
Issue Date: 24-Jan-2014
Source: MOHAMMAD ABDULLAH SALEEM AL-SHBOUL (2014-01-24). IDENTIFICATION AND CHARACTERIZATION OF THE GENETIC AETIOLOGY OF A RARE DISEASE KNOWN AS ORAL-FACIAL-DIGITAL SYNDROME TYPE II OR MOHR SYNDROME. ScholarBank@NUS Repository.
Abstract: Mohr syndrome belongs to a group of multisystemic disorders called oral-facial-digital syndromes (OFD), which comprises of 13 clinical subtypes. Mohr syndrome is an autosomal recessive disease characterized by facial dysmorphisms, defects in oral cavity, digit anomalies and other features. By homozygosity mapping and massive parallel sequencing in 2 Jordanian probands diagnosed with Mohr syndrome, we identified a frameshift mutation in the gene ASUN. This mutation results in the production of a truncated protein in patients¿ cells. Loss of ASUN in human cells causes loss of primary cilia and severe mitotic cell cycle defects. In addition, patients¿ nasal epithelial cells display motile cilia formation defects. Depletion of asun using morpholino antisense oligos (MO) in both Xenopus and zebrafish causes severe developmental delay accompanied with motility defects and ciliary phenotype. Overall, ASUN plays a pivotal role in ciliogenesis. The identification of ASUN as a causative gene for Mohr syndrome may now provide insights into the identification of other OFD causative genes.
URI: http://scholarbank.nus.edu.sg/handle/10635/107869
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