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Abstract

Abstract

Primary ciliary dyskinesia is a heterogeneous autosomal recessive genetic disorder that leads to ultra structural and functional defects of cilia. This leads to recurrent and chronic respiratory infections, sinusitis, otitis media, and male infertility. In a fraction of patients situs inversus is present. Primary ciliary dyskinesia can result from mutations in at least nine different genes; however, these mutations are responsible for the disease in only about 40 percent of patients. These genes provide instructions for making proteins that form the inner structure of cilia and produce the force needed for motility.

We identified a large inbred Qatari family with multiple individuals affected by primary ciliary dyskinesia. On examination of the known genes associated with the disorder, we encountered a homozygous variation in in affected individuals. Mutation analysis by direct resequencing of polymerase chain reaction products of exons, flanking intronic sequences and splice sites showed a novel splice site mutation (c.5945+1 G>C) in exon 34, which probably produces a truncated protein. This mutation segregates with the disorder in this family in an autosomal recessive pattern, is not present in 338 control chromosomes and is theoretically a deleterious mutation. We are currently studying the frequency of this mutation in the Qatari population and its effect on the messenger RNA and protein.

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/content/papers/10.5339/qfarf.2010.BMO7
2010-12-13
2019-11-14
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References

  1. A. Al Dosari, I. Janahi, A. Sadoon, Y. Al Sarraj, S. Mohamed, J. Al Alami, H. El Shanti, Population genetic structure of the people of Qatar, QFARF Proceedings, 2010, BMO7.
    [Google Scholar]
http://instance.metastore.ingenta.com/content/papers/10.5339/qfarf.2010.BMO7
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