机构：[a]Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China[b]Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA[c]Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China[d]Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute,Genetics and Birth Defects Control Center, National Center for Children's Health, MOE Key Laboratory of Major Diseases in Children,Beijing Children's Hospital, Capital Medical University, Beijing, China科研平台职能科室出生缺陷遗传学研究室临床流行病与循证医学中心儿科研究所首都医科大学附属北京儿童医院[e]Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA[f]The Maternity and Child Health Hospital of Guangxi, Nanning, China
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.
基金：
Shandong Provincial Natural Science FoundationNatural Science Foundation of Shandong Province [ZR2013HQ034]; National Natural Science Foundations of ChinaNational Natural Science Foundation of China [81500020]
第一作者机构：[a]Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China
通讯作者：
通讯机构：[a]Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China[*1]Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.
推荐引用方式(GB/T 7714)：
Sun Yan,Shen Jun,Hu Xuyun,et al.CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia[J].FETAL AND PEDIATRIC PATHOLOGY.2019,38(1):44-56.doi:10.1080/15513815.2018.1492052.
APA：
Sun, Yan,Shen, Jun,Hu, Xuyun,Qiao, Yu,Yang, Jianmei...&Li, Guimei.(2019).CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia.FETAL AND PEDIATRIC PATHOLOGY,38,(1)
MLA：
Sun, Yan,et al."CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia".FETAL AND PEDIATRIC PATHOLOGY 38..1(2019):44-56
