Carbonic anhydrase II deficiency: report of a novel mutation

CEN Case Reports
Aynaa AlsharidiAbdulkareem Alsuwaida

Abstract

Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder characterized by renal tubular acidosis, osteopetrosis, recurrent bone fractures, renal stones, growth failure, and mental retardation. Several cases have been reported in Saudi Arabia with homozygous mutations in CA2 consistent with a high degree of consanguinity. We report a case of carbonic anhydrase II deficiency with short stature, mixed renal tubular acidosis, recurrent bone fractures due to trivial trauma, recurrent renal stones and cerebral calcification. This patient was compound heterozygous for a novel CA2 mutation and a previously reported mutation in Arabs.

References

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Jul 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·P J VentaR E Tashian
Oct 1, 1995·The Journal of Laryngology and Otology·S M ZakzoukF H al Anazy
Mar 14, 2009·American Journal of Medical Genetics. Part a·Mohamed A AldahmeshFowzan S Alkuraya

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Citations

Jan 18, 2018·Current Osteoporosis Reports·Eleonora PalaganoAnna Villa
Mar 7, 2019·Frontiers in Endocrinology·Sara PennaAnna Villa

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