title: Carbonic anhydrase II deficiency a novel mutation.
abstract: Carbonic anhydrase II (CA II) deficiency is an extremely rare autosomal recessive disorder, characterised by a triad of osteopetrosis, renal tubular acidosis and cerebral calcifications. A 12 year old boy with classical features of CA II deficiency is reported who was found to be homozygous for the mutation in CA II gene and parents were heterozygous for the same mutation .To the best of our knowledge this is the first case report of mutation proven CA II deficiency from India.
authors: Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara, PO, Cochin, Kerala, India; and Metabolic Disease Unit, Safra Children Hospital, Sheba Medical Center, Tel Hashomer, Israel. sheelaknpn@yahoo.co.in
authors: Sheela
authors: S
authors: Nampoothiri
authors: Yair
authors: Y
authors: Anikster
mesh_terms: D000141:Acidosis, Renal Tubular / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D002114:Calcinosis / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D024403:Carbonic Anhydrase III / Q000172:deficiency* / Q000235:genetics*; D002648:Child; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010022:Osteopetrosis / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D014057:Tomography, X-Ray Computed
chemical_list: D024403:Carbonic Anhydrase III