✦ LIBER ✦

A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent

✍ Scribed by Dahmani M. Fathallah; Mohamed Bejaoui; William S. Sly; Rachid Lakhoua; Koussay Dellagi

Publisher: Springer
Year: 1994
Tongue: English
Weight: 217 KB
Volume: 94
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00211035

No coin nor oath required. For personal study only.

✦ Synopsis

We have investigated, in the genomic DNA of ten Tunisian patients, the presence of a splice junction mutation at the 5' end of intron 2 in the carbonic anhydrase II gene (CAII) previously described in six CAII-deficient patients presumed to be of Arab origin. All our patients were homozygous for this mutation and were mentally retarded, a characteristic feature of the phenotype of patients with an Arabic background. This mutation is found exclusively in patients with an Arabic background and thus may be confined to this ethnic group.

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