Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico

Ramos, Edwardo; Conde, José G.; Berrios, Rafael Arias; Pardo, Sherly; Gómez, Omar S.; Rodríguez, María Candelaria Gil

doi:10.3233/jnd-160147

Cited by 9 publications

(6 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Second, we also confirmed findings from other studies that demonstrate racial/ethnic differences in DBMD prevalence [10-27, 33]. For example, a South African study with 143 DMD patients diagnosed during 1987–1992 found substantial variation in DMD minimum prevalence (per 10,000) in blacks of 0.04 compared to 0.12 for whites, 0.71 for Indians, and 0.22 for mixed ancestry [10].…”

Section: Discussionsupporting

confidence: 89%

“…Studies from European countries, where whites are the majority, have reported DMD prevalence ranges from 0.20 to –2.50 [11, 13-15, 17, 18, 22-26]. A study in Puerto Rico, where Hispanics are the majority, found that the minimum prevalence for all age groups was 0.8 per 10,000 males in 2012 [33]. Our new findings are in line with the previous analysis of MD STAR net data, but with 32.1% new cases [9].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Duchenne and Becker Muscular Dystrophies’ Prevalence in MD STARnet Surveillance Sites: An Examination of Racial and Ethnic Differences

et al. 2021

View full text Add to dashboard Cite

Introduction: Previous studies indicated variability in the prevalence of Duchenne and Becker muscular dystrophies (DBMD) by racial/ethnic groups. The Centers for Disease Control and Prevention’s (CDC) Muscular Dystrophy Surveillance, Tracking, and Research network (MD STARnet) conducts muscular dystrophy surveillance in multiple geographic areas of the USA and continues to enroll new cases. This provides an opportunity to continue investigating differences in DBMD prevalence by race and ethnicity and to compare the impact of using varying approaches for estimating prevalence. Objective: To estimate overall and race/ethnicity-specific prevalence of DBMD among males aged 5–9 years and compare the performance of three prevalence estimation methods. Methods: The overall and race/ethnicity-specific 5-year period prevalence rates were estimated with MD STARnet data using three methods. Method 1 used the median of 5-year prevalence, and methods 2 and 3 calculated prevalence directly with different birth cohorts. To compare prevalence between racial/ethnic groups, Poisson modeling was used to estimate prevalence ratios (PRs) with non-Hispanic (NH) whites as the referent group. Comparison between methods was also conducted. Results: In the final population-based sample of 1,164 DBMD males, the overall 5-year prevalence for DBMD among 5–9 years of age ranged from 1.92 to 2.48 per 10,000 males, 0.74–1.26 for NH blacks, 1.78–2.26 for NH whites, 2.24–4.02 for Hispanics, and 0.61–1.83 for NH American Indian or Alaska Native and Asian or Native Hawaiian or Pacific Islander (AIAN/API). The PRs for NH blacks/NH whites, Hispanics/NH whites, and NH AIAN/API/NH whites were 0.46 (95% CI: 0.36–0.59), 1.37 (1.17–1.61), and 0.61 (0.40–0.93), respectively. Conclusions: In males aged 5–9 years, compared to the prevalence of DBMD in NH whites, prevalence in NH blacks and NH AIAN/API was lower and higher in Hispanics. All methods produced similar prevalence estimates; however, method 1 produced narrower confidence intervals and method 2 produced fewer zero prevalence estimates than the other two methods.

show abstract

Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Duchenne and Becker Muscular Dystrophies’ Prevalence in MD STARnet Surveillance Sites: An Examination of Racial and Ethnic Differences

et al. 2021

View full text Add to dashboard Cite

show abstract

“…A recent study of 317 patients with DMD/BMD from southern India showed that the most frequent deletion was in exons 45–47 (Vengalil et al, ). Deletion of exons 45–47 was also the most frequently occurring pattern in 141 patients with DMD/BMD from Puerto Rico (Ramos et al, ). In 180 Polish patients with DMD/BMD, the deletion mainly involved exons 45–54 and exons 3–21 (Zimowski et al, ).…”

Section: Discussionmentioning

confidence: 99%

Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies

Ling

Dai

et al. 2019

Human Mutation

View full text Add to dashboard Cite

Exonic deletions and duplications within DMD are the main pathogenic variants in Duchenne and Becker muscular dystrophies (DMD/BMD). However, few studies have profiled the flanking sequences of breakpoints and the potential mechanism underlying the breakpoints in different fragile regions of DMD. In this study, 896 Chinese male probands afflicted with DMD/BMD were selected from unrelated families and analyzed using multiplex ligation-dependent probe amplification of the DMD gene, in which we identified exon deletions in 784 subjects and duplications in 112 subjects. Deletions occurred most frequently in the genomic region encompassing exons 45-55,accounting for 73% of all deletion patterns. Furthermore, to unravel the potential mechanism that induced breaks, DMD gene capture and sequencing were performed to identify the breakpoints in 37 subjects with deletions encompassing exons 45-55 of DMD; we found that DMD instability did not arise from a single cause; instead, longsequence motifs, nonconsensus microhomologies, low-copy repeats, and microindels were embedded around the breakpoints, which may predispose DMD to instability. In summary, this study highlights the heterogeneous characteristics of the flanking sequences around the breakpoints and helps us to understand the mechanism underlying DMD gene instability.

show abstract

“…Of the 22 studies reporting DMD prevalence, 13 (59.1%) were European [25, 27, 30, 31, 33-37, 39, 41, 43, 46], 4 (18.2%) American [26,42,44,45], 2 (9.1%) Asian [29,38] and 3 (13.6%) were African [32,40].…”

Section: Pooled Dmd Overall and Birth Prevalencementioning

confidence: 99%

Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis

Crisafulli

Fontana

Salvo

et al. 2020

Orphanet J Rare Dis

263

199

View full text Add to dashboard Cite

Background Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. A recent systematic review and meta-analysis of global DMD epidemiology is not available. This study aimed to estimate the global overall and birth prevalence of DMD through an updated systematic review of the literature. Methods MEDLINE and EMBASE databases were searched for original research articles on the epidemiology of DMD from inception until 1st October 2019. Studies were included if they were original observational research articles written in English, reporting DMD prevalence and/or incidence along with the number of individuals of the underlying population. The quality of the studies was assessed using a STrengthening the Reporting of OBservational studies in Epidemiology (STROBE) checklist adapted for observational studies on rare diseases. To derive the pooled epidemiological prevalence estimates, a meta-analysis was performed using random-effects logistic models for overall and birth prevalence and within two different underlying populations (i.e. all individuals and in males only), separately. Heterogeneity was assessed using Cochran’s Q-test along with its derived measure of inconsistency I2. Results A total of 44 studies reporting the global epidemiology of DMD were included in the systematic review and only 40 were included in the meta-analysis. The pooled global DMD prevalence was 7.1 cases (95% CI: 5.0–10.1) per 100,000 males and 2.8 cases (95% CI: 1.6–4.6) per 100,000 in the general population, while the pooled global DMD birth prevalence was 19.8 (95% CI:16.6–23.6) per 100,000 live male births. A very high between-study heterogeneity was found for each epidemiological outcome and for all underlying populations (I2 > 90%). The test for funnel plot asymmetry suggested the absence of publication bias. Of the 44 studies included in this systematic review, 36 (81.8%) were assessed as being of medium and 8 (18.2%) of low quality, while no study was assessed as being of high quality. Conclusions Generating epidemiological evidence on DMD is fundamental to support public health decision-making. The high heterogeneity and the lack of high quality studies highlights the need to conduct better quality studies on rare diseases.

show abstract

Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico

Cited by 9 publications

References 24 publications

Duchenne and Becker Muscular Dystrophies’ Prevalence in MD STAR<b><i>net</i></b> Surveillance Sites: An Examination of Racial and Ethnic Differences

Duchenne and Becker Muscular Dystrophies’ Prevalence in MD STAR<b><i>net</i></b> Surveillance Sites: An Examination of Racial and Ethnic Differences

Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies

Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis

Contact Info

Product

Resources

About