Case report: Gene mutations and clinical characteristics of four patients with osteopetrosis

作者全名："Chen, Yu; Zhou, Lina; Guan, Xianmin; Wen, Xianhao; Yu, Jie; Dou, Ying"

作者地址："[Chen, Yu; Zhou, Lina; Dou, Ying] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Key Lab Child Dev & Disorders, Chongqing Key Lab Child Infect & Immun,Minist Educ, Chongqing, Peoples R China; [Chen, Yu; Guan, Xianmin; Wen, Xianhao; Yu, Jie; Dou, Ying] Chongqing Med Univ, Dept Hematol Oncol, Childrens Hosp, Chongqing, Peoples R China"

通信作者："Dou, Y (通讯作者)，Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Key Lab Child Dev & Disorders, Chongqing Key Lab Child Infect & Immun,Minist Educ, Chongqing, Peoples R China.; Dou, Y (通讯作者)，Chongqing Med Univ, Dept Hematol Oncol, Childrens Hosp, Chongqing, Peoples R China."

来源：FRONTIERS IN PEDIATRICS

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:000952688900001

JCR分区：Q2

影响因子：2.1

年份：2023

卷号：11

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：osteopetrosis; CLCN7; TCIRG1; mutation; variants

摘要："Osteopetrosis is characterized by increased bone density caused by decreased osteoclasts or dysfunction of their differentiation and absorption properties, usually caused by biallelic variants of the TCIRG1(OMIM:604592)and CLCN7(OMIM:602727) genes. Herein, the clinical, biochemical, and radiological manifestations of osteopetrosis in four Chinese children are described. Whole-exome sequencing identified compound heterozygous variants of the CLCN7 and TCIRG1 genes in these patients. In Patient 1, two novel variants were identified in CLCN7:c.880T > G(p.F294V) and c.686C > G(p.S229X). Patient 2 harbored previously reported a single gene variant c.643G > A(p.G215R) in CLCN7. Patient 3 had a novel variant c.569A > G(p.N190S) and a novel frameshift variant c.1113dupG(p.N372fs) in CLCN7. Patient 4 had a frameshift variant c.43delA(p.K15fs) and variant c.C1360T in TCIRG1, resulting in the formation of a premature termination codon (p.R454X), both of which were reported previously. Our results expand the spectrum of identified genetic variation in osteopetrosis and provide a deeper understanding of the relations between genotype and clinical characteristics of this disorder."

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