摘要：

目的 探讨面-肩-肱型肌营养不良症1型（FSHD1型）患者临床表型、基因型及二者之间的关联性。方法 2017 年 1 月至 2018 年 9 月经单分子荧光原位杂交技术共确诊 25 例 FSHD1 型患者，对其临床资料、基因型及实验室检查结果进行回顾分析；按肌肉受累部位进行年龄校正临床严重程度评分（CSS），采用两独立样本的 t 检验比较不同 D4Z4 拷贝数患者年龄校正 CSS 评分差异，Spearman 秩相关分析 FSHD1 型患者 4qA 的 D4Z4 拷贝数与年龄校正 CSS 评分及发病年龄之间的关联性。结果 D4Z4 拷贝数为 2 ~ 3 个患者年龄校正 CSS 评分高于 D4Z4 拷贝数为 4 ~ 6 个者；D4Z4 拷贝数目与年龄校正 CSS 评分呈负相关（r = -0.619，P = 0.001），而与发病年龄呈正相关（r = 0.516，P = 0.012）。结论 FSHD1 型患者4qA 的 D4Z4 拷贝数与临床严重程度呈负相关，基因型对疾病严重程度具有提示意义，同时存在除基因型外可影响其临床严重程度的因素。

关键词: 肌营养不良, 面肩肱型, 基因型, 表型, DNA 拷贝数变异

Abstract:

Objective  To investigate the clinical phenotype and genotype of facioscapulohumeral muscular dystrophy type 1 (FSHD1) and the correlation between the two. Methods The clinical data, genotype and laboratory examination of 25 patients with FSHD1 diagnosed by fluorescence in situ hybridization (FISH) from January 2017 to September 2018 were collected. Clinical Severity Score (CSS) was performed according to muscle involvement, and was corrected by age. Age-corrected CSS in 2 groups of patients with different 4qA D4Z4 repeat number was compared with two-independent-sample t test. The relation of D4Z4 repeat number with age-corrected CSS and age of onset were analyzed by using Spearman rank correlation analysis. Results The age-corrected CSS of patients with D4Z4 repeat number of 2-3 was significantly higher than that of patients with D4Z4 repeat number of 4-6. The age-corrected CSS of patients was negatively correlated with the number of D4Z4 repeat in 4qA (r = -0.619, P = 0.001) and the age of onset was positively correlated with the number of D4Z4 in 4qA (r = 0.516, P = 0.012). Conclusions The number of D4Z4 repeat in 4qA of FSHD1 patients is negatively correlated with the clinical severity. Genotype can help to indicate the clinical severity of FSHD1. At the same time, there are factors that affect the clinical severity of FSHD1 in addition to genotype.

Key words: Muscular dystrophy, facioscapulohumeral, Genotype, Phenotype, DNA copy number variations