- Clinical Study
- Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
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Seon Young Kim, Younghak Lee, Yea Eun Kang, Ji Min Kim, Kyong Hye Joung, Ju Hee Lee, Koon Soon Kim, Hyun Jin Kim, Bon Jeong Ku, Minho Shong, Hyon-Seung Yi
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Endocrinol Metab. 2018;33(3):380-386. Published online September 18, 2018
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DOI: https://doi.org/10.3803/EnM.2018.33.3.380
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Abstract
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- Background
Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely related to functional defect of osteoclasts caused by chloride voltage-gated channel 7 (CLCN7) gene mutations. In this study, we aimed to identify the pathogenic mutation in a Korean patient with ADO II using whole exome sequencing. MethodsWe evaluated the clinical, biochemical, and radiographic analysis of a 68-year-old woman with ADO II. We also performed whole exome sequencing to identify pathogenic mutation of a rare genetic disorder of the skeleton. Moreover, a polymorphism phenotyping program, Polymorphism Phenotyping v2 (PolyPhen-2), was used to assess the effect of the identified mutation on protein function. ResultsWhole exome sequencing using peripheral leukocytes revealed a heterozygous c.296A>G missense mutation in the CLCN7 gene. The mutation was also confirmed using Sanger sequencing. The mutation c.296A>G was regarded to have a pathogenic effect by PolyPhen-2 software. ConclusionWe detect a heterozygous mutation in CLCN7 gene of a patient with ADO II, which is the first report in Korea. Our present findings suggest that symptoms and signs of ADO II patient having a c.296A>G mutation in CLCN7 may appear at a very late age. The present study would also enrich the database of CLCN7 mutations and improve our understanding of ADO II.
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Citations
Citations to this article as recorded by
- Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report
Xiu-Li Song, Li-Yuan Peng, Dao-Wen Wang, Hong Wang World Journal of Clinical Cases.2022; 10(20): 6936. CrossRef - Magnetic resonance findings in a Cavalier King Charles spaniel with osteopetrosis, Chiari‐like malformation and syringomyelia
Ricardo Fernandes, C J Jordan, Colin Driver Veterinary Record Case Reports.2019;[Epub] CrossRef
- The Effect of Fenofibrate and Exercise on Metabolic Syndrome and Hepatic Steatosis in OLETF Rats.
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Kyung II Lee, Ji Min Kim, Ja Young Park, Ja Won Kim, Ji Young Mok, Mi Kyoung Park, Hye Jeong Lee, Sook Hee Hong, Wenjun Li, Duk Kyu Kim
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J Korean Endocr Soc. 2007;22(3):192-202. Published online June 1, 2007
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DOI: https://doi.org/10.3803/jkes.2007.22.3.192
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Abstract
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- BACKGROUND
The aim of this study is to verify the effects of fenofibrate monotherapy and fenofibrate combined with exercise for improving metabolic syndrome and hepatic steatosis. METHODS: Thirty-four weeks old OLETF rats (Otsuka Long-Evans Tokushima Fatty Rats, n = 20) were divided four groups: the regular diet group (n = 5, DD group), the exercise group (n = 5, DE group), the fenofibrate (100 mg/kg) treated group (n = 5, DF group) and the combination treatment group {fenofibrate and exercise (n = 5, EF group)}. After 5 weeks of treatment, blood was drawn for measuring the blood glucose, insulin, lipid and leptin levels. All the subjects were sacrificed for assessment of their body adiposity and hepatic steatosis. RESULTS: The total amount of food intake, body weight and total body weight of the rat were significantly decreased in the EF and DF groups compared to the DD group. The plasma triglyceride and glucose levels were significantly decreased in the EF and DF groups compared to the DD group. The HOMA-IR of EF, DF and DE groups were significantly decreased compared with that of the DD group. The plasma leptin levels of the EF and DF groups were significantly decreased compared with those of the DD and DE groups. The hepatic steatosis index was significantly decreased in the EF and DF groups compared to the DD and DE groups. CONCLUSION: Fenofibrate monotherapy was effective to control three major components (obesity, hypertriglyceridemia and hyperglycemia) of metabolic syndrome and hepatic steatosis in OLETF rats. Exercise combined with fenofibrate treatment showed an additional effect compared to that of fenofibrate monotherapy.
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Citations
Citations to this article as recorded by
- Effect of Fenofibrate and Exercise on Metabolic Syndrome and Hepatic Steatosis
Bong Soo Cha, Jae Hyuk Lee Journal of Korean Endocrine Society.2007; 22(3): 188. CrossRef
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