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Human Molecular Genetics, 2001, Vol. 10, No. 25 2861-2867
© 2001 Oxford University Press

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene

Erna Cleiren, Olivier Bénichou1, Els Van Hul, Jeppe Gram2, Jens Bollerslev3, Frederick R. Singer4, Katherine Beaverson5, Alexander Aledo5, Michael P. Whyte6, Tatsuo Yoneyama{dagger},7, Marie-Christine deVernejoul1 and Wim Van Hul+

Department of Medical Genetics, University of Antwerp, Belgium, 1Laboratoire INSERM U 349, Hôpital Lariboisière, Paris, France, 2Department of Medicine, Ribe County Hospital, Esbjerg, Denmark, 3Department of Endocrinology, Rikshospitalet, Oslo, Norway, 4John Wayne Cancer Institute, Santa Monica, CA, USA, 5Weill Medical College of Cornell University, New York, NY, USA, 6Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, MO, USA and 7Department of Veterans Affairs, Salem, VA, USA

Albers-Schönberg disease, or autosomal dominant osteopetrosis, type II (ADO II), is the most common form of osteopetrosis, a group of conditions characterized by an increased skeletal mass due to impaired bone and cartilage resorption. Following the assignment of the gene causing ADO II to chromosome 16p13.3, we now report seven different mutations in the gene encoding the ClCN7 chloride channel in all 12 ADO II families analysed. Additionally, a patient with the severe, autosomal recessive, infantile form of osteopetrosis (ARO) was identified as being homozygous for a ClCN7 mutation. From genotype–phenotype correlations, it seems that ADO II reflects a dominant negative effect, whereas loss-of-function mutations in ClCN7 do not cause abnormalities in heterozygous individuals. Because some ARO patients have mutations in both copies of the ClCN7 gene, ADO II is allelic with a subset of ARO cases.

+ To whom correspondence should be addressed at: Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium. Tel: +32 3820 25 85; Fax: +32 3820 25 66; Email: vhul@uia.ac.be The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors {dagger}Deceased


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