First Report of a Novel Missense CLDN19 Mutations Causing Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in a Chinese Family
| LEADER | caa a22 4500 | ||
|---|---|---|---|
| 001 | 605521425 | ||
| 003 | CHVBK | ||
| 005 | 20210128100740.0 | ||
| 007 | cr unu---uuuuu | ||
| 008 | 210128e20150401xx s 000 0 eng | ||
| 024 | 7 | 0 | |a 10.1007/s00223-014-9951-7 |2 doi |
| 035 | |a (NATIONALLICENCE)springer-10.1007/s00223-014-9951-7 | ||
| 245 | 0 | 0 | |a First Report of a Novel Missense CLDN19 Mutations Causing Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in a Chinese Family |h [Elektronische Daten] |c [Tao Yuan, Qianqian Pang, Xiaoping Xing, Xi Wang, Yuhui Li, Jingjun Li, Xueyan Wu, Mei Li, Ou Wang, Yan Jiang, Jin Dong, Weibo Xia] |
| 520 | 3 | |a 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. | |
| 540 | |a Springer Science+Business Media New York, 2014 | ||
| 690 | 7 | |a Hypomagnesemia |2 nationallicence | |
| 690 | 7 | |a Hypercalciuria |2 nationallicence | |
| 690 | 7 | |a CLDN19 gene |2 nationallicence | |
| 690 | 7 | |a Mutation |2 nationallicence | |
| 700 | 1 | |a Yuan |D Tao |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China |4 aut | |
| 700 | 1 | |a Pang |D Qianqian |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, 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, 100730, Beijing, China |4 aut | |
| 700 | 1 | |a Wang |D Xi |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China |4 aut | |
| 700 | 1 | |a Li |D Yuhui |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China |4 aut | |
| 700 | 1 | |a Li |D Jingjun |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China |4 aut | |
| 700 | 1 | |a Wu |D Xueyan |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, 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, 100730, 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, 100730, 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, 100730, Beijing, China |4 aut | |
| 700 | 1 | |a Dong |D Jin |u Department of Endocrinology, The First Affiliated Hospital of Shanxi Medical University, 030001, Taiyuan, 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, 100730, Beijing, China |4 aut | |
| 773 | 0 | |t Calcified Tissue International |d Springer US; http://www.springer-ny.com |g 96/4(2015-04-01), 265-273 |x 0171-967X |q 96:4<265 |1 2015 |2 96 |o 223 | |
| 856 | 4 | 0 | |u https://doi.org/10.1007/s00223-014-9951-7 |q text/html |z Onlinezugriff via DOI |
| 898 | |a BK010053 |b XK010053 |c XK010000 | ||
| 900 | 7 | |a Metadata rights reserved |b Springer special CC-BY-NC licence |2 nationallicence | |
| 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/s00223-014-9951-7 |q text/html |z Onlinezugriff via DOI | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Yuan |D Tao |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Pang |D Qianqian |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, 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, 100730, Beijing, China |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Wang |D Xi |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Li |D Yuhui |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Li |D Jingjun |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, Beijing, China |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Wu |D Xueyan |u Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, 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, 100730, 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, 100730, 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, 100730, Beijing, China |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Dong |D Jin |u Department of Endocrinology, The First Affiliated Hospital of Shanxi Medical University, 030001, Taiyuan, 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, 100730, Beijing, China |4 aut | ||
| 950 | |B NATIONALLICENCE |P 773 |E 0- |t Calcified Tissue International |d Springer US; http://www.springer-ny.com |g 96/4(2015-04-01), 265-273 |x 0171-967X |q 96:4<265 |1 2015 |2 96 |o 223 | ||