A Kuwaiti Patient with Osteopetrosis, Renal Tubular Acidosis and Cerebral Calcification is Homozygous for a Splice Junction Mutation in the Carbonic Anhydrase Gene

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Osteopetrosis, with renal tubular acidosis and cerebral calcification (ORTACC), is a rare genetic disorder caused by mutations in the carbonic anhydrase II (CAII) gene. Several CAII mutations have been reported, including a splice junction mutation in intron 2 in Arab patients from the Middle East and North Africa. Herein, we present our PCR/RFLP protocol for the diagnosis of this Arabic mutation and report its detection in a Kuwaiti patient with ORTACC.