title: Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.
abstract: Carbonic anhydrase II (CA2) deficiency syndrome is an autosomal recessive disorder leading to osteopetrosis, renal tubular acidosis, and cerebral calcifications. Affected members of an Arab family with the CA2 deficiency syndrome carried the "Egyptian mutation" in CA2, i.e., c.191 del A, H64fsX90. One affected member, homozygote for the mutation, developed primary pulmonary hypertension. Primary pulmonary hypertension was never described before in patients with this unique syndrome. The likelihood of both occurring randomly in a single individual is very low. We therefore speculate that there might be a possibility of an etiologic link between these entities.
authors.affiliation: Department of Pediatrics, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
authors.forename: Danny
authors.initials: D
authors.lastname: Lotan
authors.forename: Arik
authors.initials: A
authors.lastname: Eisenkraft
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Jacobsson
authors.forename: Omer
authors.initials: O
authors.lastname: Bar-Yosef
authors.forename: Robert
authors.initials: R
authors.lastname: Kleta
authors.forename: Nurit
authors.initials: N
authors.lastname: Gal
authors.forename: Lisa
authors.initials: L
authors.lastname: Raviv-Zilka
authors.forename: Hagar
authors.initials: H
authors.lastname: Gore
authors.forename: Yair
authors.initials: Y
authors.lastname: Anikster
mesh_terms: D000141:Acidosis, Renal Tubular / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D001927:Brain Diseases / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D002114:Calcinosis / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D024402:Carbonic Anhydrase II / Q000172:deficiency* / Q000235:genetics; D002675:Child, Preschool; D006801:Humans; D006976:Hypertension, Pulmonary / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D007223:Infant; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics; D008297:Male; D009154:Mutation; D010022:Osteopetrosis / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D013577:Syndrome
chemical_list: D024402:Carbonic Anhydrase II