Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis

Hu, Peiyi Y.; Lim, Erna; Ciccolella, Jessica; Strisciuglio, Pietro; Sly, William S.

doi:10.1002/(sici)1098-1004(1997)9:5<383::aid-humu1>3.0.co;2-5

Cited by 30 publications

(13 citation statements)

References 10 publications

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“…Each parent and a brother had one normal exon 2 and one mutant exon 2 (containing the new EcoO109 I restriction site) (48). Patients 2 and 3 each had a mutation in exon 3 (His→Tyr) of the CAII gene, which was similar to that reported in Belgian and American families (49). However, the phenotype of the Japanese patients, especially the degree of mental retardation, was much more severe.…”

Section: Caii Gene Mutationssupporting

confidence: 68%

Hereditary Distal Renal Tubular Acidosis: New Understandings

et al. 2001

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The primary or hereditary form of distal renal tubular acidosis (dRTA), although rare, has received increased attention recently because of dramatic advances in the understanding of its genetic basis. The final regulation of renal acid excretion is effected by various acid/base transporters localized in specialized cells in the cortical collecting and outer medullary collecting tubules. Inherited defects in two of the key acid/base transporters involved in distal acidification, as well as mutations in the cytosolic carbonic anhydrase gene, can cause dRTA. The syndrome is inherited in both autosomal dominant and recessive patterns; patients with recessive dRTA present with either acute illness or growth failure at a young age, sometimes accompanied by deafness, whereas dominant dRTA is usually a milder disease and involves no hearing loss. The AE1 gene encodes two Cl-/HCO3- exchangers that are expressed in the erythrocyte and in the acid-secreting intercalated cells of the kidney. AE1 contributes to urinary acidification by providing the major exit route for HCO3- across the basolateral membrane. Several mutations in the AE1 gene cosegregate with dominant dRTA. The modest degree of hypofunction exhibited in vitro by these mutations, however, does not explain the abnormal distal acidification phenotype. Other AE1 mutations have been linked to a recessive syndrome of dRTA and hemolytic anemia in which hypofunction can be discerned by in vitro studies. Several mutations in the carbonic anyhdrase II gene are associated with the autosomal recessive syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification. Some of these individuals present with deafness of the conductive type. By contrast, more recent studies have shown that mutations in ATP6B1, encoding the B-subtype unit of the apical H(+) ATPase, are responsible for a group of patients with autosomal recessive dRTA associated with sensorineural deafness. Thus, the presence of deafness and the type provide an important clue to the genetic lesion underlying hereditary dRTA.

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Section: Caii Gene Mutationssupporting

confidence: 68%

Hereditary Distal Renal Tubular Acidosis: New Understandings

et al. 2001

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“…The index case surprisingly did not carry the Arab mutation in CA2. He was homozygous for the Egyptian mutation [5], c.191del A (Fig. 1).…”

Section: Resultsmentioning

confidence: 99%

“…About 65% of all patients reported so far were of Arab origin with prominent metabolic acidosis and mental retardation [2,5,6].…”

Section: Introductionmentioning

confidence: 99%

Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome

et al. 2005

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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.

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“…This mutation was first described in a Belgian patient homozygous for a C to T transition in exon 3, resulting in the replacement of a conserved His at position 107 by Tyr. 15 This mutation has since been reported in three American sisters (heterozygotes) and two Japanese patients (homozygotes). 16 These patients show a wide range of disease severities, the American and Belgian patients were not mentally retarded, while the Japanese patients had IQZ65 and IQZ41.…”

Section: Introductionmentioning

confidence: 94%

“…13 Eleven different mutations in the HCA II gene have been reported to cause CADS. 14,15 In one of them, His107 is replaced with Tyr. This mutation was first described in a Belgian patient homozygous for a C to T transition in exon 3, resulting in the replacement of a conserved His at position 107 by Tyr.…”

Section: Introductionmentioning

confidence: 99%