# Genetic characteristics and clinical analysis of 20 patients with Gaucher's disease

## TL;DR

This study analyzed 20 Gaucher's disease patients to explore the relationship between their genetic mutations and clinical symptoms.

## Contribution

The study reports novel mutations, including S310G and K196R, and suggests a potential link between N227S and neurological symptoms.

## Key findings

- 15 gene mutations were identified, with L483P being the most common.
- S310G and K196R mutations were first reported by this study and in Chinese populations, respectively.
- N227S mutation may be associated with neurological complications.

## Abstract

戈谢病（Gaucher disease，GD）是一种常染色体隐性溶酶体贮积症，具有高度异质性。本研究通过回顾性分析山西白求恩医院20例GD患者的临床表现、实验室检查、酶学及基因结果，进一步了解GD患者临床表型与基因型相关性。20例GD患者中，Ⅰ型GD16例，中位确诊年龄24岁；Ⅲ型GD 4例，中位确诊年龄19岁。所有患者均有脾大和血小板减少；16例患者有骨骼影像学改变，5例合并骨痛症状。20例患者共检出15种基因突变，多为错义突变，以L483P（35.7％）突变多见，其次为V414L、L303I、F252I，突变位点多见于7号外显子。其中，S310G突变为本课题组首次报道，K196R突变为中国人群首次报道，发现N227S突变可能与神经病变相关。GD患者临床表型与基因型之间仍存在不确定性。