Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Autosomal rezessive Osteopetrose 3 mit renaler tubulärer Azidose

Autosomal rezessive Osteopetrose 3 mit renaler tubulärer Azidose wird durch Mutationen im CA2-Gen ausgelöst. An der Niere zeigt sich diese Erkrankung in Form einer tubulären Azidose vom gemischten Typ.

Gliederung

Osteopetrose
Autosomal dominante Osteopetrose 1
Autosomal rezessive Osteopetrose 3 mit renaler tubulärer Azidose
CA2

Referenzen:

1.

Borthwick KJ et al. (2003) A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.

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2.

Hu PY et. al. (1992) A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.

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3.

Roth DE et. al. (1992) Molecular basis of human carbonic anhydrase II deficiency.

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4.

Venta PJ et. al. (1991) 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.

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5.

Strisciuglio P et. al. (1990) Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity?

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6.

Sundaram V et. al. (1986) Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation.

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7.

Ohlsson A et. al. (1986) Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification.

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8.

Cochat P et. al. (1987) [Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases].

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9.

Al Rajeh S et. al. (1988) The syndrome of osteopetrosis, renal acidosis and cerebral calcification in two sisters.

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10.

Sly WS et. al. (1985) Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

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11.

Guibaud P et. al. (1972) [Osteopetrosis and renal tubular acidosis. 2 cases of this association in a sibship].

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12.

Vainsel M et. al. (1972) Osteopetrosis associated with proximal and distal tubular acidosis.

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13.

Sly WS et. al. (1983) Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

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14.

Bourke E et. al. (1981) Renal tubular acidosis and osteopetrosis in siblings.

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15.

Ohlsson A et. al. (1980) Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families.

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16.

Whyte MP et. al. (1980) Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters.

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17.

Soda H et. al. (1995) Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT-->TAG) at Tyr-40 in exon 2, (Y40X).

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18.

Aramaki S et. al. (1993) Carbonic anhydrase II deficiency in three unrelated Japanese patients.

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19.

Soda H et. al. (1996) A point mutation in exon 3 (His 107-->Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement.

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20.

Hu PY et. al. (1997) Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis.

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21.

Fathallah DM et. al. (1997) Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus.

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