A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series
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چکیده
منابع مشابه
A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series
UNLABELLED INTRODUCTION Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton. The absence or malfunction of osteoclasts is found to be strongly associated with the disease evolution. Currently, four clinically distinct forms of the disease have been recognized: the infantile autosomal recessive osteopetrosis, the malignant and the intermediate forms, a...
متن کاملNovel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2
Osteopetrosis is a heritable bone condition featuring increased bone density due to defective osteoclastic bone resorption. Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W) in the chloride channel 7 gene (CLCN7) was identified. This variant cosegregated with the disorder ...
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Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
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The aim of this study was to identify the causative mutation in a family with an unusual presentation of autosomal dominant osteopetrosis (OPT), proximal renal tubular acidosis (RTA), renal stones, epilepsy, and blindness, a combination of features not previously reported. We undertook exome sequencing of one affected and one unaffected family member, followed by targeted analysis of known cand...
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ژورنال
عنوان ژورنال: Journal of Medical Case Reports
سال: 2013
ISSN: 1752-1947
DOI: 10.1186/1752-1947-7-7