Referenced in: none

Automatically associated channels: ClC4 , ClC7 , TRP

Title: Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia.

Authors: Yang Xue, Weiguang Wang, Tianqiu Mao, Xiaohong Duan

Journal, date & volume: J Craniomaxillofac Surg, 2012 Jul , 40, 416-20

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/21962762

Abstract
Osteopetrosis is a group of genetic bone disorders. There are three types of osteopetrosis: autosomal recessive osteopetrosis (ARO), autosomal dominant osteopetrosis type II (ADO II), and intermediate autosomal recessive osteopetrosis (IARO). The prevalence of ADO II is about 1:100,000, while no more than 20 cases of IARO have been reported worldwide. We present the first Chinese IARO patient with a novel homozygous variant in CLCN7 gene (p. Pro470Leu) and an ADO II patient with a heterozygous variant in CLCN7 gene (p. Arg286Trp). In addition to general osteosclerosis, the striking features of these two patients are unerupted teeth with root dysplasia. We speculate that ClC-7 in different tooth cells may contribute directly to the root development, the defect of ClC-7 may have a dose dependent effect on the phenotype of root dysplasia, and the tooth position may also affect the root phenotype with dysfunctional ClC-7.