Determination of <i>SMN1</i> and <i>SMN2</i> Copy Numbers in a Korean Population using Multiplex Ligation-dependent Probe Amplification

Yoon, Seoyoung; Lee, Chang Hoon; Lee, Kyung A.

doi:10.3343/kjlm.2010.30.1.93

Cited by 14 publications

(14 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The two SMN genes are highly homologous, but nucleotide variations in exon 7 and exon 8 of SMN1 and SMN2 genes are responsible for functional differences (Rochette et al, 2001;Yoon et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Spinal Muscular Atrophy Carrier Frequency and Estimated Prevalence of the Disease in Moroccan Newborns

Lyahyai

Sbiti

Barkat

et al. 2012

Genetic Testing and Molecular Biomarkers

View full text Add to dashboard Cite

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases caused by homozygous deletion of exon 7 of the survival motor neuron 1 (SMN1) gene in approximately 95% of SMA patients. Carrier frequency studies of SMA have been reported for various populations. The aim of our study was to estimate the carrier frequency of the common SMN1 exon 7 deletion in the Moroccan population to achieve an insight into the prevalence of SMA in Morocco. In this study, we used a reliable quantitative real-time polymerase chain reaction assay with SYBR Green I dye to determine the copy number of the SMN1 gene. Analysis of 150 Moroccan newborns predicts a carrier frequency of approximately 1:25, which would mean a calculated SMA prevalence of 1:1800 after correction due to consanguinity. These results show as expected that the SMA carrier frequency in Morocco is higher than in the European populations and is close to those of Middle Eastern countries. Genetic carrier testing for genetic counseling should be recommended particularly to families with a clear clinical history of SMA.

show abstract

Section: Introductionmentioning

confidence: 99%

“…Approximately 95% of SMA patients carry homozygous deletion of the SMN1 gene, and the remaining 5% of the affected individuals may be compound heterozygote for a deleted gene and an intragenic mutation on the other SMN1 gene (Lefebvre et al, 1995;Rodrigues et al, 1995;Kang et al, 2009;Yoon et al, 2010;Morikawa et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

Spinal Muscular Atrophy Carrier Frequency and Estimated Prevalence of the Disease in Moroccan Newborns

Lyahyai

Sbiti

Barkat

et al. 2012

Genetic Testing and Molecular Biomarkers

View full text Add to dashboard Cite

show abstract

“…9 In 2002, Ogino et al 2 reported testing 663 asymptomatic individuals by SMN1 copy number analysis, the majority (71%) of whom had a family history of confirmed or suspected SMA. Subsequently, 10, 11, 12 studies from around the world including Australia, 13 Korea, 14 Taiwan, 11 Israel, 15, 16 China 17 and the United States 18 have called for screening individuals without a family history of SMA for carrier status, citing disease severity and a high pan-ethnic carrier frequency. In 2008, the American College of Medical Genetics (ACMG) issued practice guidelines recommending all couples be offered SMA carrier screening, regardless of race or ethnicity, with the goal of allowing identified carriers to make informed reproductive choices.…”

Section: Introductionmentioning

confidence: 99%

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

Sugarman¹,

Nagan²,

Zhu³

et al. 2011

Eur J Hum Genet

564

418

View full text Add to dashboard Cite

Spinal muscular atrophy (SMA) is a leading inherited cause of infant death with a reported incidence of ∼1 in 10 000 live births and is second to cystic fibrosis as a common, life-shortening autosomal recessive disorder. The American College of Medical Genetics has recommended population carrier screening for SMA, regardless of race or ethnicity, to facilitate informed reproductive options, although other organizations have cited the need for additional large-scale studies before widespread implementation. We report our data from carrier testing (n=72 453) and prenatal diagnosis (n=121) for this condition. Our analysis of large-scale population carrier screening data (n=68 471) demonstrates the technical feasibility of high throughput testing and provides mutation carrier and allele frequencies at a level of accuracy afforded by large data sets. In our United States pan-ethnic population, the calculated a priori carrier frequency of SMA is 1/54 with a detection rate of 91.2%, and the pan-ethnic disease incidence is calculated to be 1/11 000. Carrier frequency and detection rates provided for six major ethnic groups in the United States range from 1/47 and 94.8% in the Caucasian population to 1/72 and 70.5% in the African American population, respectively. This collective experience can be utilized to facilitate accurate pre- and post-test counseling in the settings of carrier screening and prenatal diagnosis for SMA.

show abstract

“…Reports of carrier frequencies in populations vary: there are low frequencies in African Americans (1/91) [14] and in the geographic regions of Spain (1/125) [14] , Northeast England (1/80) [16] , Warsaw (1/70) [17] , South China (1/63) [18] and Israel (1/62) [19] ; intermediate frequencies in Ashkenazi Jews (1/46), Caucasians (1/37) [14] , Chinese (1/42) [20] and in the regions of Italy (1/57) [21] , Asia (1/56) [14] , Korea (1/47-1/50) [6,22] , North Dakota (1/41) [23] , Philadelphia (1/40) [24] , Poland and Germany (1/35) [3,4] , and France (1/34) [5] ; and high frequencies in Saudi Arabia and Iran (1/20) [25,26] .…”

Section: Introductionmentioning

confidence: 99%

Detection of Spinal Muscular Atrophy Carriers in a Sample of the Brazilian Population

Bueno¹,

Gouvea²,

Genari³

et al. 2011

Neuroepidemiology

View full text Add to dashboard Cite

Background: Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene. Identification of spinal muscular atrophy carriers has important implications for individuals with a family history of the disorder and for genetic counseling. The aim of this study was to determine the frequency of carriers in a sample of the nonconsanguineous Brazilian population by denaturing high-performance liquid chromatography (DHPLC). Methods: To validate the method, we initially determined the relative quantification of DHPLC in 28 affected patients (DHPLC values: 0.00) and 65 parents (DHPLC values: 0.49–0.69). Following quantification, we studied 150 unrelated nonconsanguineous healthy individuals from the general population. Results: Four of the 150 healthy individuals tested (with no family history of a neuromuscular disorder) presented a DHPLC value in the range of heterozygous carriers (0.6–0.68). Conclusions: Based on these results, we estimated there is a carrier frequency of 2.7% in the nonconsanguineous Brazilian population, which is very similar to other areas of the world where consanguineous marriage is not common. This should be considered in the process of genetic counseling and risk calculations.

show abstract

Determination of SMN1 and SMN2 Copy Numbers in a Korean Population using Multiplex Ligation-dependent Probe Amplification

Cited by 14 publications

References 12 publications

Spinal Muscular Atrophy Carrier Frequency and Estimated Prevalence of the Disease in Moroccan Newborns

Spinal Muscular Atrophy Carrier Frequency and Estimated Prevalence of the Disease in Moroccan Newborns

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

Detection of Spinal Muscular Atrophy Carriers in a Sample of the Brazilian Population

Contact Info

Product

Resources

About