A patient with Mulibrey dwarfism caused by a novel homogeneous mutation in a splicing site of TRIM37 gene

  • 连 群,许珊珊,李伶俐,等
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  • 1.Department of Pediatrics,The First Affiliated Hospital of Xiamen University, 2. Genokon Institute of Medical Science and Laboratory Co.,Ltd., Xiamen 361000, Fujian, China

Online published: 2019-08-09

Abstract

Objective To report the clinical phenotype and genotype of a patient with Mulibrey nanism. Methods Clinical data and genetic test of a patient diagnosed with Mulibrey nanism were retrospectively analyzed. Results The patient presented with short stature, milk and coffee spots on the skin, triangular face, teeth dysplasia, and hepatomegaly complicated with constrictive pericarditis, next-generation sequencing of the proband revealed a novel homozygous splicing variant (IVS13-1G>C) in the TRIM37 gene, separately inherited from his father and mother. According to the classification standards and guidelines of ACMG genetic variation, it is determined to be a pathogenic variant, but the impact of this variant still needs to be confirmed through RNA or protein functional analysis. Conclusion The TRIM37 gene mutation can lead to Mulibrey nanism (muscleliver-brain-eye nanism). This is the first case reported in China and a novel splicing variant has been detected.

Cite this article

连 群,许珊珊,李伶俐,等 . A patient with Mulibrey dwarfism caused by a novel homogeneous mutation in a splicing site of TRIM37 gene[J]. Journal of Clinical Pediatrics, 2019 , 37(8) : 612 . DOI: 10.3969/j.issn.1000-3606.2019.08.014

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