Clinical phenotype and genotype of early-onset facioscapulohumeral muscular dystrophy type 1
10.3760/cma.j.cn112140-20191015-00648
- VernacularTitle:早发型面肩肱型肌营养不良1型三例临床和遗传学研究
- Author:
Xiaoyu CHEN
1
;
Xingzhi CHANG
;
Xiaona FU
;
Lin GE
;
Yanbin FAN
;
Jieyu LIU
;
Zhiqiang WANG
;
Wei ZHANG
;
Hui XIONG
Author Information
1. 北京大学第一医院儿科 100034
- Keywords:
Muscular dystrophy, facioscapulohumeral;
Molecular diagnostic techniques;
Genotype;
Phenotype
- From:
Chinese Journal of Pediatrics
2020;58(5):408-412
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical, pathological and genetic characteristics of early-onset facioscapulohumeral muscular dystrophy type 1 (FSHD1), in order to increase awareness of the disease.Methods:In this retrospective study, the history of 3 patients, who were diagnosed with early-onset FSHD1 by molecular genetic test in Pediatric Outpatient Department of Peking University First Hospital from 4 th June 2012 to 4 th June 2018, were collected. Their clinical data, genotypes, phenotypes and pathological features of muscle biopsy were analyzed. Results:All the three patients were males at the age of 14 years, 11 years and 9 years 11 months, respectively, whose onset age was between infancy and early childhood and they got confirmed diagnosis within 4 to 10 years after the onset of illness. Their molecular genetic testing indicated that the number of D4Z4 repeat arrays located in 4qA were 2, 3 and 4, which was consistent with the characteristics of early-onset FSHD1. Their common clinical manifestations were facial, scapular and proximal lower limb muscle progressively and asymmetrically weakness. All patients had different severity of spine deformity and high-frequency dominant sensorineural hearing loss, however, the phenotype of the third patient with 4 D4Z4 repeats was significantly the most severe.Conclusions:Early-onset FSHD1 usually concealed onset and is difficult to diagnose. Its precise diagnosis depends on molecular genetic techniques, but the genotypes of 3 patients here are not corresponding to phenotypes strictly and it is necessary to accumulate more cases for further analysis in order to provide a more reliable basis for the relationship of genotype-phenotype and prognosis evaluation of the disease.
