caa a22 4500 605521425 CHVBK 20210128100740.0 cr unu---uuuuu 210128e20150401xx s 000 0 eng 10.1007/s00223-014-9951-7 doi (NATIONALLICENCE)springer-10.1007/s00223-014-9951-7 First Report of a Novel Missense CLDN19 Mutations Causing Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in a Chinese Family [Elektronische Daten] [Tao Yuan, Qianqian Pang, Xiaoping Xing, Xi Wang, Yuhui Li, Jingjun Li, Xueyan Wu, Mei Li, Ou Wang, Yan Jiang, Jin Dong, Weibo Xia] Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive disorder caused by mutations in the CLDN16 or CLDN19 genes, encoding claudin-16 and claudin-19 in the thick ascending limb of Henle's loop. In patients with claudin-19 mutations, severe ocular involvement (macular coloboma, pigmentary retinitis, nystagmus, or visual loss) has been described. In this report, we presented a 12-year-old girl with rickets, polyuria, and polydipsia. She was the daughter of consanguineous parents, and she had a history of recurred hypocalcemic and hypomagnesemic tetany. On physical examination, bilateral horizontal nystagmus and severe myopia were detected. Laboratory examination revealed hypomagnesemia, hypocalcemia, hypercalciuria, nephrocalcinosis, and renal stone. A clinical diagnosis of FHHNC caused possibly by claudin-19 mutation was decided with the ocular findings. DNA analysis revealed a novel homozygous missense mutation c.241C>T in the CLDN19 gene. In conclusion, in a patient with hypomagnesemia, hypercalciuria, nephrocalcinosis, and ocular findings, a diagnosis of FHHNC caused by claudin-19 mutation should be considered. This is the first study of FHHNC in Chinese population. Our findings of the novel mutation c.241C>T in exon 2 add to the list of more than 16 mutations of CLDN19 gene reported. Springer Science+Business Media New York, 2014 Hypomagnesemia nationallicence Hypercalciuria nationallicence CLDN19 gene nationallicence Mutation nationallicence Yuan Tao Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China aut Pang Qianqian Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, 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, 100730, Beijing, China aut Wang Xi Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China aut Li Yuhui Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China aut Li Jingjun Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China aut Wu Xueyan Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, 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, 100730, 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, 100730, 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, 100730, Beijing, China aut Dong Jin Department of Endocrinology, The First Affiliated Hospital of Shanxi Medical University, 030001, Taiyuan, 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, 100730, Beijing, China aut Calcified Tissue International Springer US; http://www.springer-ny.com 96/4(2015-04-01), 265-273 0171-967X 96:4<265 2015 96 223 https://doi.org/10.1007/s00223-014-9951-7 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/s00223-014-9951-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Yuan Tao Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China aut NATIONALLICENCE 700 1- Pang Qianqian Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, 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, 100730, Beijing, China aut NATIONALLICENCE 700 1- Wang Xi Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China aut NATIONALLICENCE 700 1- Li Yuhui Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China aut NATIONALLICENCE 700 1- Li Jingjun Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China aut NATIONALLICENCE 700 1- Wu Xueyan Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, 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, 100730, 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, 100730, 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, 100730, Beijing, China aut NATIONALLICENCE 700 1- Dong Jin Department of Endocrinology, The First Affiliated Hospital of Shanxi Medical University, 030001, Taiyuan, 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, 100730, Beijing, China aut NATIONALLICENCE 773 0- Calcified Tissue International Springer US; http://www.springer-ny.com 96/4(2015-04-01), 265-273 0171-967X 96:4<265 2015 96 223