A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent.
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.
Laboratory of Hematology and Immunopathology, Institut Pasteur Tunis, Tunisia.
D M
DM
Fathallah
M
M
Bejaoui
W S
WS
Sly
R
R
Lakhoua
K
K
Dellagi
D000141:Acidosis, Renal Tubular / Q000208:ethnology / Q000235:genetics; D001483:Base Sequence; D002256:Carbonic Anhydrases / Q000172:deficiency* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010022:Osteopetrosis / Q000208:ethnology / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D013577:Syndrome; D014416:Tunisia
D002256:Carbonic Anhydrases