Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.
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.
Lotan
Danny
D
Department of Pediatrics, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
Eisenkraft
Arik
A
Jacobsson
Jeffrey M
JM
Bar-Yosef
Omer
O
Kleta
Robert
R
Gal
Nurit
N
Raviv-Zilka
Lisa
L
Gore
Hagar
H
Anikster
Yair
Y
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
D024402:Carbonic Anhydrase II