TRIM37基因新剪接位点突变致Mulibrey侏儒症1例报告

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

目的探讨Mulibrey侏儒症的临床及基因突变特点。方法回顾分析1例经基因检测确诊Mulibrey侏儒症患儿的临床资料、基因检测及家系验证结果。结果男性患儿,12岁5个月,有身材矮小、皮肤牛奶咖啡斑、三角形脸、牙齿不齐、肝肿大,合并缩窄性心包炎。二代测序检测分析发现患儿17号染色体TRIM37基因存在一个未报道的剪接区纯合变异位点IVS13-1G>C,分别来自于父母;患儿同胞弟弟未检出该变异;参考ACMG遗传变异分类标准与指南,判定为致病性变异。结论发现1例TRIM37基因剪接位点突变导致的Mulibrey侏儒症,但尚需RNA或蛋白质功能分析确认。

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.