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A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries

✍ Scribed by Peiyi Y. Hu; Donna E. Roth; Laura A. Skaggs; Patrick J. Venta; Richard E. Tashian; Pierre Guibaud; William S. Sly

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 438 KB
Volume: 1
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380010404

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✦ Synopsis

Clinical manifestations in patients with carbonic anhydrase (CA) I1 deficiency include osteopetrosis, renal tubular acidosis, and cerebral calcification. Of the 39 reported cases of the carbonic anhydrase I1 deficiency syndrome, 72% were patients from North African and Middle Eastern countries, most, if not all, of whom were of Arabic descent. We have analyzed DNAs from members of six unrelated Arabic kindreds and found five to be homozygous and one heterozygous for a novel splice junction (donor site) mutation at the 5' end of intron 2. These findings suggest that a common "Arabic" mutation may be the predominant cause of C A I1 deficiency in this region. The mutation introduces a new Sau3Al restriction site which allows polymerase chain reaction (PCR)-based diagnosis of this mutation that should be useful in diagnosis, carrier detection, and prenatal diagnosis. The presence of mental retardation and relative infrequency of skeletal fractures distinguish the clinical course of the patients with the Arabic mutation from those of the American and Belgian patients with the His 107 + Tyr mutation.

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