caa a22 4500 60552145X CHVBK 20210128100740.0 cr unu---uuuuu 210128e20150501xx s 000 0 eng 10.1007/s00223-015-9963-y doi (NATIONALLICENCE)springer-10.1007/s00223-015-9963-y A Mutation in CTSK Gene in an Autosomal Recessive Pycnodysostosis Family of Chinese Origin [Elektronische Daten] [Xianglan Huang, Xuan Qi, Mei Li, Ou Wang, Yan Jiang, Xiaoping Xing, Ying Hu, Weibo Xia] 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. Springer Science+Business Media New York, 2015 Pycnodysostosis nationallicence CTSK nationallicence Cathepsin K deficiency nationallicence Acro-osteolysis nationallicence Osteoclast nationallicence Huang Xianglan 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 aut Qi Xuan 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 aut Li Mei 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 aut Wang Ou 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 aut Jiang Yan 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 aut Xing Xiaoping 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 aut Hu Ying 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 aut Xia Weibo 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 aut Calcified Tissue International Springer US; http://www.springer-ny.com 96/5(2015-05-01), 373-378 0171-967X 96:5<373 2015 96 223 https://doi.org/10.1007/s00223-015-9963-y text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s00223-015-9963-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Huang Xianglan 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 aut NATIONALLICENCE 700 1- Qi Xuan 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 aut NATIONALLICENCE 700 1- Li Mei 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 aut NATIONALLICENCE 700 1- Wang Ou 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 aut NATIONALLICENCE 700 1- Jiang Yan 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 aut NATIONALLICENCE 700 1- Xing Xiaoping 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 aut NATIONALLICENCE 700 1- Hu Ying 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 aut NATIONALLICENCE 700 1- Xia Weibo 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 aut NATIONALLICENCE 773 0- Calcified Tissue International Springer US; http://www.springer-ny.com 96/5(2015-05-01), 373-378 0171-967X 96:5<373 2015 96 223