کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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3143476 | 1196817 | 2012 | 5 صفحه PDF | دانلود رایگان |
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.
Journal: Journal of Cranio-Maxillofacial Surgery - Volume 40, Issue 5, July 2012, Pages 416–420