Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Autosomal dominante Osteopetrose 2

Die autosomal dominante Osteopetrose 2 wird durch einen gestörten Chloridkanal ausgelöst. Die Mutationen finden sich im CLCN7-Gen.

Gliederung

Osteopetrose
Autosomal dominante Osteopetrose 1
Autosomal dominante Osteopetrose 2
CLCN7
Autosomal rezessive Osteopetrose 4
Gemischte renale tubuläre Azidose 3 mit Osteopetrose 3

Referenzen:

1.

Yoneyama T et. al. (1992) Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II--a family study.

[^]
2.

Bénichou O et. al. (2001) Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3.

[^]
3.

Cleiren E et. al. (2001) Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.

[^]
4.

Bollerslev J et. al. (1988) Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis.

[^]
5.

Andersen PE et. al. (1987) Heterogeneity of autosomal dominant osteopetrosis.

[^]
6.

Bollerslev J et. al. (1993) Autosomal dominant osteopetrosis.

[^]
7.

Walpole IR et. al. (1990) Autosomal dominant osteopetrosis type II with "malignant" presentation: further support for heterogeneity?

[^]
8.

Yoneyama T et. al. (1989) Elevated levels of creatine kinase BB isoenzyme in three patients with adult osteopetrosis.

[^]
9.

Hiroyama Y et. al. () Creatine kinase brain isoenzyme in infantile osteopetrosis.

[^]
10.

Johnston CC et. al. (1968) Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form.

[^]
11.

Key L et. al. (1984) Treatment of congenital osteopetrosis with high-dose calcitriol.

[^]
12.

Manzke E et. al. (1982) Skeletal remodelling and bone related hormones in two adults with increased bone mass.

[^]
13.

White KE et. al. (1999) Locus heterogeneity of autosomal dominant osteopetrosis (ADO).

[^]
14.

Bénichou OD et. al. (2000) Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients.

[^]
15.

Waguespack SG et. al. (2002) Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers.

[^]
16.

None (1959) Facial paralysis associated with osteopetrosis (marble bones); report of a case of the syndrome occurring in five generations of the same family.

[^]
17.

None (1961) Osteopetrosis: review of dominant cases and frequency in a Brazilian state.

[^]
18.

Waguespack SG et. al. (2007) Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation.

[^]
19.

Del Fattore A et. al. (2008) A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts.

[^]
20.

None (1949) Osteopetrosis in successive generations.

[^]
Update: 27. März 2019