CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia
CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia
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两名中国特发性婴儿高钙血症患者的 CYP24A1 变异
DOI：
10.1080/15513815.2018.1492052
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发表时间：
2019-01
影响因子：
1.1
通讯作者：
Guimei Li
中科院分区：
文献类型：
--
作者：
Yan Sun;Jun Shen;Xuyun Hu;Yu Qiao;Jianmei Yang;Yiping Shen;Guimei Li
背景：CYP24A1双等位致病变异可引起特发性婴儿高钙血症（HCINF）。方法：我们报告了2例中国CHINF1患儿的另外2例分子异常。结果：2例患者均发现CYP24A1双等位基因变异。患者1为c.449 + 1G > T和c.1426_1427delCT复合杂合。患者2为c.1310C >a和c.1426_1427delCT复合杂合。c.1310C > A和c.449 + 1G > T是两个不同的CYP24A1新变体。多种计算工具预测两者都会影响蛋白质功能。先前在HCINF1患者中共报告了36种变异，其中27种被归类为致病性或可能致病性，9种临床意义不确定。结论：基因检测有助于指导易感人群避免服用维生素D，采取预防措施，避免并发症的发生。
Abstract Background: Biallelic pathogenic variants in CYP24A1 can cause idiopathic infantile hypercalcemia (HCINF). Methods: We report 2 additional molecular abnormalities in 2 Chinese children with CHINF1. Results: Biallelic variants in CYP24A1 were found in two patients. Patient One was compound heterozygous for c.449 + 1G > T and c.1426_1427delCT. Patient Two was compound heterozygous for c.1310C > A and c.1426_1427delCT. The c.1310C > A and c.449 + 1G > T were two different novel CYP24A1 variants. Multiple computational tools predicted that both impact protein function. A total of 36 variants have been previously reported in patients with HCINF1, of which 27 were classified as pathogenic or likely pathogenic and nine as uncertain clinical significance. Conclusion: Genetic tests are helpful in order to counsel the susceptible individuals to avoid vitamin D and take preventive measures in order to avoid complications.
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影响因子：
1.3
作者：
S. Skálová;L. Cerna;M. Bayer;Š. Kutílek;M. Konrad;K. Schlingmann
通讯作者：
S. Skálová;L. Cerna;M. Bayer;Š. Kutílek;M. Konrad;K. Schlingmann
影响因子：
4.1
作者：
Cools, M.;Goemaere, S.;Bouillon, R.
通讯作者：
Bouillon, R.
DOI：
--
发表时间：
2006
期刊：
Biochimica et biophysica acta
影响因子：
--
作者：
S. Masuda;S. Strugnell;J. Knutson;R. St-Arnaud;Glenville Jones
通讯作者：
S. Masuda;S. Strugnell;J. Knutson;R. St-Arnaud;Glenville Jones
影响因子：
6.6
作者：
Dinour, Dganit;Beckerman, Pazit;Holtzman, Eli J.
通讯作者：
Holtzman, Eli J.
影响因子：
3
作者：
Dinour, Dganit;Davidovits, Miriam;Holtzman, Eli J.
通讯作者：
Holtzman, Eli J.