A Mutation in CTSK Gene in an Autosomal Recessive Pycnodysostosis Family of Chinese Origin
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| 024 | 7 | 0 | |a 10.1007/s00223-015-9963-y |2 doi |
| 035 | |a (NATIONALLICENCE)springer-10.1007/s00223-015-9963-y | ||
| 245 | 0 | 2 | |a A Mutation in CTSK Gene in an Autosomal Recessive Pycnodysostosis Family of Chinese Origin |h [Elektronische Daten] |c [Xianglan Huang, Xuan Qi, Mei Li, Ou Wang, Yan Jiang, Xiaoping Xing, Ying Hu, Weibo Xia] |
| 520 | 3 | |a Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, osteosclerosis, acro-osteolysis, frequent fractures, and skull deformities. Mutation in the gene encoding cathepsin K (CTSK), which is a lysosomal cysteine protease, has been found to be responsible for this disease. Here we reported a consanguineous Chinese family with 1 affected individual demonstrating autosomal recessive pycnodysostosis with recurrent kidney stone, a new clinical manifestation which has not been reported in patients of pycnodysostosis before. To identify the pathogenic mutation, we evaluated the patient clinically, biochemically, and radiographically. To screen for mutations in the CTSK gene of the patient and his family members, all of its exons and exon-intron junctions were PCR amplified from genomic DNA and sequenced. Sequence analysis of the patient's CTSK gene revealed homozygosity for a missense mutation (c.746T>C) in exon 6, which leads to amino change (p.Ile249Thr) in the mature CTSK protein. This mutation was firstly reported by Michela Donnarumma and his colleagues in 2007 in a Spanish family. Our study strengthens the role of this particular mutation in the pathogenesis of pycnodysostosis. | |
| 540 | |a Springer Science+Business Media New York, 2015 | ||
| 690 | 7 | |a Pycnodysostosis |2 nationallicence | |
| 690 | 7 | |a CTSK |2 nationallicence | |
| 690 | 7 | |a Cathepsin K deficiency |2 nationallicence | |
| 690 | 7 | |a Acro-osteolysis |2 nationallicence | |
| 690 | 7 | |a Osteoclast |2 nationallicence | |
| 700 | 1 | |a Huang |D Xianglan |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan NO.1, 100730, Wangfujing, Beijing, China |4 aut | |
| 700 | 1 | |a Qi |D Xuan |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan NO.1, 100730, Wangfujing, Beijing, China |4 aut | |
| 700 | 1 | |a Li |D Mei |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan NO.1, 100730, Wangfujing, Beijing, China |4 aut | |
| 700 | 1 | |a Wang |D Ou |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan NO.1, 100730, Wangfujing, Beijing, China |4 aut | |
| 700 | 1 | |a Jiang |D Yan |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan NO.1, 100730, Wangfujing, Beijing, China |4 aut | |
| 700 | 1 | |a Xing |D Xiaoping |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan NO.1, 100730, Wangfujing, Beijing, China |4 aut | |
| 700 | 1 | |a Hu |D Ying |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan NO.1, 100730, Wangfujing, Beijing, China |4 aut | |
| 700 | 1 | |a Xia |D Weibo |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan NO.1, 100730, Wangfujing, Beijing, China |4 aut | |
| 773 | 0 | |t Calcified Tissue International |d Springer US; http://www.springer-ny.com |g 96/5(2015-05-01), 373-378 |x 0171-967X |q 96:5<373 |1 2015 |2 96 |o 223 | |
| 856 | 4 | 0 | |u https://doi.org/10.1007/s00223-015-9963-y |q text/html |z Onlinezugriff via DOI |
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| 908 | |D 1 |a research-article |2 jats | ||
| 949 | |B NATIONALLICENCE |F NATIONALLICENCE |b NL-springer | ||
| 950 | |B NATIONALLICENCE |P 856 |E 40 |u https://doi.org/10.1007/s00223-015-9963-y |q text/html |z Onlinezugriff via DOI | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Huang |D Xianglan |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan NO.1, 100730, Wangfujing, Beijing, China |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Qi |D Xuan |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan NO.1, 100730, Wangfujing, Beijing, China |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Li |D Mei |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan NO.1, 100730, Wangfujing, Beijing, China |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Wang |D Ou |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan NO.1, 100730, Wangfujing, Beijing, China |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Jiang |D Yan |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan NO.1, 100730, Wangfujing, Beijing, China |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Xing |D Xiaoping |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan NO.1, 100730, Wangfujing, Beijing, China |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Hu |D Ying |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan NO.1, 100730, Wangfujing, Beijing, China |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Xia |D Weibo |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan NO.1, 100730, Wangfujing, Beijing, China |4 aut | ||
| 950 | |B NATIONALLICENCE |P 773 |E 0- |t Calcified Tissue International |d Springer US; http://www.springer-ny.com |g 96/5(2015-05-01), 373-378 |x 0171-967X |q 96:5<373 |1 2015 |2 96 |o 223 | ||