title: A point mutation in exon 3 (His 107-->Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement.
abstract: We have analyzed two unrelated Japanese patients with carbonic anhydrase II deficiency born to consanguineous parents. We have identified the same mutation as that reported to be homozygous in a Belgian family and compound heterozygous in an American family. It comprises to C-to-T transition that results in the amino acid substitution of Tyr (TAT) for His (CAT) at position 107. This point mutation creates an AccI site that can be conveniently screened by the polymerase chain reaction/restriction fragment length polymorphism method using a restriction enzyme for gene tracking. Our patients exhibit severe mental retardation, not seen in the Belgian and American patients.
authors.affiliation: Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Soda
authors.forename: S
authors.initials: S
authors.lastname: Yukizane
authors.forename: I
authors.initials: I
authors.lastname: Yoshida
authors.forename: Y
authors.initials: Y
authors.lastname: Koga
authors.forename: S
authors.initials: S
authors.lastname: Aramaki
authors.forename: H
authors.initials: H
authors.lastname: Kato
mesh_terms: D002256:Carbonic Anhydrases / Q000172:deficiency* / Q000235:genetics*; D002493:Central Nervous System Diseases / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D007564:Japan; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D002256:Carbonic Anhydrases