One case report of infantile malignant osteopetrosis caused by TCIGR1 gene insertion mutation

  •  ZHANG Lin
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  • Shaoxing Women and Children’s Hospital, Hangzhou 312000, Zhejiang, China

Received date: 2016-01-15

  Online published: 2016-01-15

Abstract

 Objective To study the clinical and genetic features of infantile malignant osteopetrosis. Methods The clinical data and genetic testing results from one patient of infantile malignant osteopetrosis were analyzed. The related literatures were reviewed. Results One year and six months old female, whose X-ray radiography showed generalize increased bone mineral density and reduced bone marrow space. The bone density was high in vertebral endplates and low in vertebral intermediate. Genetic testing showed that the heterozygous mutations of C.1450_1451insT c.1451A>T: 484P>P in TCIRG1 gene exon 11 in patient`s father and mother. The patient was homozygous mutation. In addition, a missense mutation c.902C>T, p. Pro301Leu of COL9A1 gene was found in the patient. Conclusion The diagnosis of infantile malignant osteopetrosis is mainly according to clinical manifestations and genetic testing.

Cite this article

 ZHANG Lin . One case report of infantile malignant osteopetrosis caused by TCIGR1 gene insertion mutation[J]. Journal of Clinical Pediatrics, 2016 , 34(1) : 43 . DOI: 10.3969 j.issn.1000-3606.2016.01.012

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