Kuwaiti patient with osteopetrosis, renal tubular acidosis and cerebral Calcification is homozygous for a splice junction mutation in the carbonic anhydrase gene

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 Kuwait patient with ORTACC