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Literature DB >> 7959703

A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent.

D M Fathallah¹, M Bejaoui, W S Sly, R Lakhoua, K Dellagi.

Abstract

We have investigated, in the genomic DNA of ten Tunisian patients, the presence of a splice junction mutation at the 5' end of intron 2 in the carbonic anhydrase II gene (CAII) previously described in six CAII-deficient patients presumed to be of Arab origin. All our patients were homozygous for this mutation and were mentally retarded, a characteristic feature of the phenotype of patients with an Arabic background. This mutation is found exclusively in patients with an Arabic background and thus may be confined to this ethnic group.

Entities: Disease Gene Species

Mesh：

Substances：
Carbonic Anhydrases

Year: 1994 PMID： 7959703 DOI： 10.1007/BF00211035

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

6 in total

1. [Syndrome associating: osteopetrosis, tubular acidosis, mental retardation and cerebral calcifications due to carbonic anhydrase II deficiency. Apropos of 3 cases in the siblings].

Authors: M Bejaoui; A Kamoun; M Baraket; H Bourguiba; R Lakhoua
Journal: Arch Fr Pediatr Date: 1991-03

Review 2. [Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases].

Authors: P Cochat; I Loras-Duclaux; P Guibaud
Journal: Pediatrie Date: 1987

3. Molecular basis of human carbonic anhydrase II deficiency.

Authors: D E Roth; P J Venta; R E Tashian; W S Sly
Journal: Proc Natl Acad Sci U S A Date: 1992-03-01 Impact factor: 11.205

4. Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene.

Authors: P J Venta; R J Welty; T M Johnson; W S Sly; R E Tashian
Journal: Am J Hum Genet Date: 1991-11 Impact factor: 11.025

5. A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.

Authors: P Y Hu; D E Roth; L A Skaggs; P J Venta; R E Tashian; P Guibaud; W S Sly
Journal: Hum Mutat Date: 1992 Impact factor: 4.878

6. Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

Authors: W S Sly; D Hewett-Emmett; M P Whyte; Y S Yu; R E Tashian
Journal: Proc Natl Acad Sci U S A Date: 1983-05 Impact factor: 11.205

6 in total

4 in total

A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent.

1. [Syndrome associating: osteopetrosis, tubular acidosis, mental retardation and cerebral calcifications due to carbonic anhydrase II deficiency. Apropos of 3 cases in the siblings].

Review 2. [Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases].

3. Molecular basis of human carbonic anhydrase II deficiency.

4. Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene.

5. A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.

6. Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

Review 1. Molecular mechanisms and regulation of urinary acidification.

2. Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency.

Review 3. Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies.

4. Carbonic Anhydrase II Deficiency in a Saudi Woman.