Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the CICN7 chloride channel gene

Erna Cleiren, Olivier Bénichou, Els Van Hul, Jeppe Gram, Jens Bollerslev, Frederick R. Singer, Katherine Beaverson, Alexander Aledo, Michael P. Whyte, Tatsuo Yoneyama, Marie Christine De Vernejoul, Wim Van Hul

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304 Scopus citations

Abstract

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 CICN7 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 CICN7 mutation. From genotype-phenotype correlations, it seems that ADO II reflects a dominant negative effect, whereas loss-of-function mutations in CICN7 do not cause abnormalities in heterozygous individuals. Because some ARO patients have mutations in both copies of the CICN7 gene, ADO II is allelic with a subset of ARO cases.

Original languageEnglish
Pages (from-to)2861-2867
Number of pages7
JournalHuman molecular genetics
Volume10
Issue number25
StatePublished - Dec 1 2001

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