Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis].

To detect potential mutation of the TCIRG1 gene in a boy with infantile malignant osteopetrosis. Target sequence capture and next-generation sequencing were applied for the proband and his parents to identify the causative mutation, and Sanger sequencing was used to verify the suspected mutation. The proband manifested at 4 months of age with symptoms including anemia, thrombocytopenia, hepatosplenomegaly, and cephalus quadratus. X-ray revealed generalized increased bone density. A novel compound heterozygous mutation, c.796G to T (p.E266X) and c.1372G to A (p.G458S), were identified in the boy. His father and grandmother also carried the c.796G to T (p.E266X) mutation, and his mother carried the c.1372G to A (p.G458S) mutation. Neither mutation was found in the PubMed and ClinVar databases. The novel compound heterozygous mutation c.796G to T (p.E266X) and c.1372G to A (p.G458S) probably underlies the disease in the proband. Above results may enrich the mutation spectrum of the TCIRG1 gene and provide new evidence for the molecular basis of infantile malignant osteopetrosis.

Citation

Min Wang, Tianping Chen, Ling Jin, Lijun Qu, Jian Wang, Yan Li, Jie Cheng, Zhe Xu, Chengjun Wang, Shan Gao. Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2017 Jun 10;34(3):377-381

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PMID: 28604959

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