Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations

Krause, Amanda; Seymour, Heather; Ramsay, Michèle

doi:10.1146/annurev-genom-083117-021256

Cited by 15 publications

(13 citation statements)

References 148 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…cystic fibrosis, beta-thalassaemia and Fanconi anaemia, to name a few. [46] The challenges are significant, not least of which is the cost of such treatments. We must also acknowledge the health burden in SA.…”

Section: Resultsmentioning

confidence: 99%

“…Using a modified version of CRISPR (CRISPR-Cpf1), Zhou et al [45] were able to identify suitable endonucleases that would allow repair of this mutation, leading to restoration of SMN protein in patient-specific iPSCs.However, it is estimated that only 50% of patients in SA have the homozygous deletion mutation exhibited globally, due to the complexities of the genomic rearrangements of the region. [46] Furthermore, they reveal frequent deletions of SMN2, [47] suggesting targeting of SMN2 to restore SMN protein will have limited impact in SA patients. Therefore, if iPSC technology using SA SMA patient-specific cells could be generated, rescue of the mutation could reveal whether these unique patients would benefit from genome engineering targeting the SMN2 gene rearrangement.…”

Section: Neurodegenerative Disordersmentioning

confidence: 99%

See 1 more Smart Citation

Therapeutic genome engineering: Implications for South Africa

2019

View full text Add to dashboard Cite

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Neurodegenerative Disordersmentioning

confidence: 99%

Therapeutic genome engineering: Implications for South Africa

2019

View full text Add to dashboard Cite

show abstract

“…The unadjusted estimated global prevalence of DM1 was 9.27 cases per 100,000 (95% CI: 4.73-15.21), while the region-adjusted pooled prevalence was 9.02 cases per 100,000 (95% CI: 5.60-13.17). Although ethnicity information was not explicitly mentioned in the included studies, previous studies have shown that the prevalence of DM1 is altered in different ethnicities [38][39][40]. It has been acknowledged that DM1 is more common in populations with European ancestry, while it is rare and even absent in Southern Africa [39,40], which may be partly explained by the low frequency of long CTG repeats within the normal range in the Southern African population [41].…”

Section: Discussionmentioning

confidence: 99%

“…Although ethnicity information was not explicitly mentioned in the included studies, previous studies have shown that the prevalence of DM1 is altered in different ethnicities [38][39][40]. It has been acknowledged that DM1 is more common in populations with European ancestry, while it is rare and even absent in Southern Africa [39,40], which may be partly explained by the low frequency of long CTG repeats within the normal range in the Southern African population [41]. Regarding the prevalence in Asia, the estimated prevalence of DM1 was low in Taiwan and Hong Kong [28,29] with 0.45 cases and 0.37 cases per 100,000, respectively.…”

Section: Discussionmentioning

confidence: 99%

Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis

Liao

Zhang

et al. 2022

Neuroepidemiology

View full text Add to dashboard Cite

Introduction: Myotonic dystrophy (DM), the most common muscular dystrophy in adults, is a group of autosomal inherited neuromuscular disorders characterized by progressive muscle weakness, myotonia, and cardiac conduction abnormalities. Due to the different gene mutations, DM has been subclassified into DM type 1 (DM1) and type 2 (DM2). However, the prevalence studies on DM and its subtypes are insufficient. Methods: The PubMed (1966–2022), MEDLINE (1950–2022), Web of Science (1864–2022), and Cochrane Library (2022) databases were searched for original research articles published in English. The quality of the included studies was assessed by a checklist adapted from Strengthening the Reporting of Observational studies in Epidemiology. To derive the pooled epidemiological prevalence estimates, a meta-analysis was performed using the random-effects model. Heterogeneity was assessed using the Cochrane Q statistic and the I2 statistic. Results: A total of 17 studies were included in the systematic review and meta-analysis. Of the 17 studies evaluated, 14 studies were considered medium quality, 2 studies were considered high quality, and 1 study was considered low quality. The global prevalence of DM varied widely from 0.37 to 36.29 cases per 100,000. The pooled estimate of the prevalence of DM was 9.99 cases (95% CI: 5.62–15.53) per 100,000. The pooled estimate of the prevalence of DM1 was 9.27 cases (95% CI: 4.73–15.21) per 100,000, ranging from 0.37 to 36.29 cases per 100,000. The pooled estimate of the prevalence of DM2 was 2.29 cases (95% CI: 0.17–6.53) per 100,000, ranging from 0.00 to 24.00 cases per 100,000. Conclusion: Our study provided accurate estimates of the prevalence of DM. The high heterogeneity and the lack of high-quality studies highlight the need to conduct higher quality studies on orphan diseases.

show abstract

“…Mutations in deafness genes have diverse patterns and ethnicity-specific features. In Sub-Saharan African populations, common deafness does not arise from mutations in GJB2 and GJB7 but may arise from mutations in HTT and JPH3 (Krause, Seymour, & Ramsay, 2018). Mutations associated with genetic deafness are located in GJB2, SLC26A4, and OTOF in the Pakistani population and in GJB2, TMC1, and CDH23 in the Indian population (Yan et al, 2015).…”

Section: Introductionmentioning

confidence: 99%

Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China

Lai

et al. 2021

Birth Defects Research

View full text Add to dashboard Cite

Background: Mutations in genes associated with deafness differ between ethnic groups and regions in China. In this study, we investigated the genes associated with deafness in pregnant women to analyze the distribution of mutations leading to deafness in Zhuzhou, China.Methods: A total of 10,684 pregnant women were enrolled in this study. DNA samples were collected to detect the 14 common mutations in deafness genes (at 108 sites). Results: Prevalence of mutations in deafness genes in pregnant women with normal hearing in Zhuzhou was 4.92% (526/10,684). Among these 526 pregnant women with deafness gene mutations, the frequencies of mutated GJB2, GJB3, SLC26A4, and mtDNA 12S rRNA were 40.11, 7.22, 40.68, and 11.98%, respectively. The hotspots for mutations in the deafness genes were: c.235delC in GJB2 (31.18%), c.919-2A > G in SLC26A4 (18.44%), c.299_300delAT in GJB2(5.70%), m.7444G > A in mtDNA 12S rRNA (5.70%), c.1229C > T in SLC26A4 (5.51%), m.1555A > G in mtDNA 12S rRNA (5.32%), accounting for 71.85%. Moreover, husbands of the 526 pregnant women who carried the deafness gene mutations were also included in the analysis to detect deafness gene mutations. Among the 526 husbands, 23 husbands carried mutations in deafness genes, accounting for 4.37%. The deafness gene mutations of the husbands and pregnant wives were not the same. In addition, the results of the neonatal follow-up hearing tests were all normal. Conclusion:Our study identified the prevalence of mutations in GJB2, SLC26A4, mtDNA 12S rRNA, and GJB3 genes in pregnant women from Zhuzhou, China.

show abstract

Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations

Cited by 15 publications

References 148 publications

Therapeutic genome engineering: Implications for South Africa

Therapeutic genome engineering: Implications for South Africa

Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis

Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China

Contact Info

Product

Resources

About