Table 2.

Proportion of Osteopetrosis Phenotype Caused by Pathogenic Variants in CLCN7

Osteopetrosis Phenotype# of CLCN7 Pathogenic Variants% of Osteopetrosis Caused by Pathogenic Variants in CLCN7
Infantile malignant CLCN7-related autosomal recessive osteopetrosis (ARO)213%
Intermediate autosomal osteopetrosis (IAO)240% 1
160% 1
Autosomal dominant osteopetrosis type II (ADOII)175% 2

Del Fattore et al [2006] found CLCN7 pathogenic variants in 78% of individuals with ADOII; Frattini et al [2003] found CLCN7 pathogenic variants in 72% of individuals with ADOII. In other cohorts, rates may be higher [unpublished observations]. It remains possible that pathogenic variants in another gene cause the ADOII phenotype in a subset of cases.

From: CLCN7-Related Osteopetrosis

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