✦ LIBER ✦

A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population

✍ Scribed by Mahmoud F. El-Said; Ramin Badii; M.S. Bessisso; Noora Shahbek; Mariam G. El-Ali; Mariam El-Marikhie; M. El-Zyoid; M.S.Z. Salem; Abdulbari Bener; Georg F. Hoffmann; Johannes Zschocke

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 161 KB
Volume: 27
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9436

No coin nor oath required. For personal study only.

✦ Synopsis

We report the results of a study carried out to delineate genetic and epidemiological aspects of homocystinuria in the Qatari population. Sixty-four patients with homocystinuria (37 males, 27 females, age 1 to 29 years) from 31 nuclear families were ascertained over a period of more than four years. The incidence of homocystinuria in Qatar was calculated to be > or =1:3000, the highest in the world known so far. All patients in whom data were available were vitamin B6-nonresponsive. Molecular studies were performed in all patients. All 53 patients from tribe M and all three patients from tribe K were homozygous for the mutation c.1006C>T (p.R336C) in the CBS gene, with an additional seven patients resulting from mixed marriages between tribe M and tribe K. A single patient from tribe S was homozygous for mutation c.700G>A (p.D234N) in the CBS gene. Both mutations have been previously reported but involve hypermutable CpG dinculeotides and may be recurrent mutations in the Qatari population. The results of this study illustrate a strong founder effect causing a high prevalence of an autosomal recessive disease in a highly consanguineous Arabian population. Molecular neonatal screening may be suitable for early detection of homocystinuria in this population.

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