Genetic screening in neonates with pseudohypertrophy muscular dystrophy
10.3760/cma.j.cn113903-20231114-00321
- VernacularTitle:假肥大型肌营养不良症新生儿基因筛查
- Author:
Yun SUN
1
;
Xin WANG
;
Xianwei GUAN
;
Zhilei ZHANG
;
Jingjing ZHANG
;
Dongyang HONG
;
Tao JIANG
Author Information
1. 南京医科大学附属妇产医院（南京市妇幼保健院）遗传医学中心，南京 210004
- Keywords:
Pseudohypertrophy muscular dystrophy;
Newborn genetic screening;
DMD;
Carrier
- From:
Chinese Journal of Perinatal Medicine
2024;27(6):504-510
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To understand the regional prevalence and hotspot mutations through analysis of genetic screening results for newborns with pseudohypertrophic muscular dystrophy.Methods:A total of 22 813 newborns (12 065 males and 10 748 females) born at the Women's Hospital of Nanjing Medical University from March 18, 2022, to October 31, 2023, were selected. The Dystrophin gene ( DMD) was detected using chip capture next-generation sequencing technology, followed by bioinformatics analysis. Pathogenic mutations identified were validated using multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing. Serum creatine kinase levels were also tested in suspected male patients. Descriptive analysis was applied for this study. Results:Among the 10 748 girls, 14 carriers of DMD gene were detected (0.013%), of which, nine cases were validated in the family; one case was a de novo mutation, five were inherited from the mother, and three were inherited from the father. The screening identified nine suspected patients among the boys (0.075%), and eight of them were confirmed by family validation, in which three were de novo mutations, and five were inherited from the mother. Among all identified DMD mutations, deletions were the most common one, accounting for 52.2% (12/23), incluling four cases of deletion at 49-51 exon. Conclusions:Newborn genetic screening based on chip capture next-generation sequencing technology combined with bioinformatics analysis is helpful in early detection of patients and carriers of pseudohypertrophy muscular dystrophy. According to the preliminary statistics, the incidence rate of DMD/BMD in this area is 1/1 341 male infants and the hotspot mutation is exon 49 to 51 deletion.
