A novel homozygous mutation of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia

被引：1
|
作者：
Li, Nan [1 ,2 ]
Li, Xiang [3 ]
Ni, Xiao-Lin [3 ]
Li, Xiu-Ying [1 ,4 ]
Xia, Wei-Bo [3 ]
Yang, Guo-Qing [1 ]
Pei, Yu [1 ]
机构：
[1] Chinese Peoples Liberat Army Gen Hosp, Med Ctr 1, Dept Endocrinol, Beijing 100853, Peoples R China
[2] Chinese Peoples Liberat Army Gen Hosp, Med Ctr 2, Dept Endocrinol, Beijing 100853, Peoples R China
[3] Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R China
[4] Capital Med Univ, Liangxiang Teaching Hosp, Dept Endocrinol, Beijing 102401, Peoples R China
来源：
CHINESE MEDICAL JOURNAL | 2021年 / 134卷 / 15期
关键词：
D O I：
10.1097/CM9.0000000000001568
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：1869 / 1871
页数：3
相关论文
共 50 条
  • [41] Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: Modulation of clinical severity by vitamin D status
    Zajickova, Katerina
    Vrbikova, Jana
    Canaff, Lucie
    Pawelek, Peter D.
    Goltzman, David
    Hendy, Geoffrey N.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2007, 92 (07): : 2616 - 2623
  • [42] A novel mutation in the calcium-sensing receptor in familiar hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
    Andrade, SC
    Kohara, SK
    D'Souza-Li, LF
    JOURNAL OF BONE AND MINERAL RESEARCH, 2004, 19 : S195 - S195
  • [43] Hypocalciuric hypercalcemia and autoantibodies against the calcium-sensing receptor
    Shakibai, N
    NEW ENGLAND JOURNAL OF MEDICINE, 2004, 351 (21): : 2237 - 2238
  • [44] Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia
    Ward, BK
    Magno, AL
    Blitvich, BJ
    Rea, AJ
    Stuckey, BGA
    Walsh, JP
    Ratajczak, T
    CLINICAL ENDOCRINOLOGY, 2006, 64 (05) : 580 - 587
  • [45] Two Novel Calcium Sensing Receptor Gene Mutations Associated with Hypocalciuric Hypercalcemia
    Tosur, Mustafa
    Andres, Maria San
    Adewole, Fadeke T.
    Riley, William
    Lee, Phillip D. K.
    ENDOCRINE REVIEWS, 2014, 35 (03)
  • [46] Novel mutations of the calcium-sensing receptor impede differential diagnosis of primary hyperparathyroidism and familial hypocalciuric hypercalcemia
    Bhangu, Jagdeep Singh
    Baumgartner-Parzer, Sabina
    Hargitai, Lindsay
    Mazal, Peter
    Scheuba, Christian
    Riss, Philipp
    GLAND SURGERY, 2022, 11 (01) : 12 - 22
  • [47] Hypocalciuric hypercalcemia presenting as neonatal rib fractures - A newly described mutation of the calcium-sensing receptor gene
    Nyweide, Kristin
    Feldman, Kenneth W.
    Gunther, Daniel F.
    Done, Stephen
    Lewis, Charlotte
    Van Eenwyk, Claire
    PEDIATRIC EMERGENCY CARE, 2006, 22 (11) : 722 - 724
  • [48] FAMILIAL HYPOCALCIURIC HYPERCALCEMIA ASSOCIATED WITH MUTATION IN THE HUMAN CA2+-SENSING RECEPTOR GENE
    AIDA, K
    KOISHI, S
    INOUE, M
    NAKAZATO, M
    TAWATA, M
    ONAYA, T
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1995, 80 (09): : 2594 - 2598
  • [49] Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: Multiple different phenotypes associated with an inactivating alu insertion mutation of the calcium-sensing receptor gene
    Cole, DEC
    Janicic, N
    Salisbury, SR
    Hendy, GN
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 71 (02): : 202 - 210
  • [50] A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia
    Okzaki, R
    Chikatsu, N
    Nakatsu, L
    Takeuchi, Y
    Ajima, M
    Miki, J
    Fujita, T
    Arai, M
    Totsuka, Y
    Tanaka, K
    Fukumoto, S
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (01): : 363 - 366
12345