关键词: 身材矮小；　Mulibrey侏儒症；　TRIM37基因；　全外显子组测序；　基因突变

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.

Key words: short stature;　Mulibrey nanism;　TRIM37 gene;　whole exome sequencing;　gene mutation