title: Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family.
abstract: Carbonic anhydrase (CA) II deficiency is characterized by osteopetrosis, renal tubular acidosis, cerebral calcification, and usually severe mental retardation. We describe an Italian boy with this disease whose mental retardation was relatively mild and whose renal tubular acidosis had only a distal component. A novel mutation of a gt-->tt change of splice donor site at the 5' end of intron 6 was demonstrated. Comparison of this patient with two previous Italian families with different mutations illustrates the clinical and molecular heterogeneity of this disease. The identification of the mutation in this family provided the opportunity for prenatal diagnosis in a subsequent pregnancy.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Reggio Calabria, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Strisciuglio
authors.forename: P Y
authors.initials: PY
authors.lastname: Hu
authors.forename: E J
authors.initials: EJ
authors.lastname: Lim
authors.forename: J
authors.initials: J
authors.lastname: Ciccolella
authors.forename: W S
authors.initials: WS
authors.lastname: Sly
mesh_terms: D000141:Acidosis, Renal Tubular / Q000175:diagnosis / Q000235:genetics*; D002256:Carbonic Anhydrases / Q000172:deficiency* / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation; D010022:Osteopetrosis / Q000175:diagnosis / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D002256:Carbonic Anhydrases