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Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients

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单位： [1]Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China [2]Department of Endocrinology, The First affiliated Hospital of Shanxi Medical University, Taiyuan 030001, China [3]Department of Geriatrics, Beijing Friendship Hospital affiliated to Capital Medical University, Beijing 100050, China

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关键词： Autosomal dominant osteopetrosis type II CLCN7 Clinical manifestation Intermediate autosomal recessive osteopetrosis Mutation Phenotype

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A Summary Osteopetrosis is a group of genetic bone disorders. Mutations in the chloride channel 7 gene (CLCN7) lead to chloride channel defect, which results in autosomal dominant osteopetrosis type II (ADO-II), autosomal recessive osteopetrosis (ARO), and intermediate autosomal recessive osteopetrosis (IARO). In the present study, we identified seven novel mutations of the CLCN7 gene and reported the first case of IARO with compound heterozygous mutation in Chinese population. Introduction Osteopetrosis is a heritable bone disorder due to the deficiency of or function defect in osteoclasts. Mutations in the CLCN7 lead to chloride channel defects, which result in osteopetrosis with diverse severity ranging from asymptomatic or relatively mild symptoms in ADO-II to the very severe phenotype in ARO. Heterozygous mutations in CLCN7 are associated to ADO-II, while homozygous and compound heterozygous mutations in CLCN7 may result in ARO and IARO. To date, a total of 24 mutations in CLCN7 were identified in ADO-II, and only 3 mutations were identified in IARO. In the present study, we reported seven unrelated ADO-II patients and one IARO patient from Chinese population and elucidated the characteristics of CLCN7 gene mutations in these patients. Methods All 25 CLCN7 exons and exon-intron boundaries from genomic DNA were amplified and sequenced in eight affected individuals suffering from ADO-II/IARO. The clinical, biochemical, and radiographic analysis were evaluated to compare the differences between ADO-II and IARO both in genotype and phenotype. Results The results showed that there were seven novel CLCN7 mutations identified in these ADO-II/IARO patients, including six heterozygous missense mutations (p.L224R, p.S290Y, p.R326G, p.G347R, p.S473N, and p.L564P) and a novel splice mutation (p.K691FS). Conclusions The compound heterozygous mutations (p.L224R and p.K691FS) were firstly observed in one IARO patient. The present study would enrich the database of CLCN7 mutations and improve our understanding of this heritable bone disorder.

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出版当年[2015]版：

大类 | 2 区医学

小类 | 3 区内分泌学与代谢

最新[2025]版：

大类 | 2 区医学

小类 | 2 区内分泌学与代谢

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出版当年[2014]版：

Q2 ENDOCRINOLOGY & METABOLISM

最新[2023]版：

Q1 ENDOCRINOLOGY & METABOLISM

影响因子： 最新[2023版] 4.2 最新五年平均[2021-2025] 4.3 出版当年[2014版] 4.169 出版当年五年平均[2010-2014] 4.242 出版前一年[2013版] 4.165 出版后一年[2015版] 3.445

第一作者：

第一作者单位： [1]Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China [2]Department of Endocrinology, The First affiliated Hospital of Shanxi Medical University, Taiyuan 030001, China

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Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients

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