Origin and Diffusion of the Myotonic Dystrophy Gene in the Saguenay Region (Quebec)

Bouchard, Gérard; Roy, Raymond C.; Declos, Manon; Mathieu, Jean; Kouladjian, Kevork

doi:10.1017/s0317167100028651

Cited by 32 publications

(16 citation statements)

References 2 publications

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“…Monitoring and responsiveness to controlled ovarian stimulation in myotonic dystrophy (MD) and X-linked disorder (XLD) carriers: subanalysis on first cycles E 2 = estradiol; NS = not significant. were all performed in the Saguenay region, located in the North-east of the province of Quebec in Canada and known for its exceptionally high prevalence of the disease (1/475) (Bouchard et al, 1988;Roy et al, 1989;Veillette et al, 1989;Dao et al, 1992).…”

Section: Discussionmentioning

confidence: 99%

Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?

Feyereisen¹,

Amar²,

Kerbrat³

et al. 2005

Human Reproduction

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BACKGROUND: Myotonic dystrophy (MD) is characterized by myotonia, multisystemic lesions and hypogonadism.In women, the relationship between MD and infertility remains controversial. This study investigated the ovarian status and response to controlled ovarian stimulation (COS) in MD women entering our preimplantation genetic diagnosis programme. METHODS: We elected to compare MD patients with X-linked disorders (XLD) carriers, given that XLD have not been shown to affect ovarian status. On the one hand, we analysed all the cycles performed and, on the other hand, we conducted a subanalysis based on only first cycles. RESULTS: MD and XLD groups were similar with regard to women's ages, day 3 parameters, number of oocytes retrieved, embryos obtained and prevalence of top quality embryos. The day of HCG was significantly delayed and the prevalence of poor quality embryos was higher in the MD group. The subanalysis on first cycles only also showed significantly fewer mature follicles on the day of HCG in MD population. Implantation and pregnancy rates were similar in both groups; however, no pregnancy occurred at the first cycle in MD (0 out of 4), whereas 77% of pregnancies (10/13) occurred at the first attempt in XLD carriers. CONCLUSIONS: These results indicate that the responsiveness to COS was moderately hindered in MD women as compared to controls. Reassuring data about implantation and pregnancy rates support the feasibility of PGD in selected mildly affected MD women.

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Section: Discussionmentioning

confidence: 99%

Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?

Feyereisen¹,

Amar²,

Kerbrat³

et al. 2005

Human Reproduction

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“…15 The highest known prevalence has been reported in the French Canadian population (1 in 475) because of a founder effect. 16 In non-European populations much lower prevalence rates have been observed, for example a prevalence of 0.46 per 100 000 in Taiwan has been estimated based on DM1 patients and families identified by genetic analysis during 1990-2001 (96 subjects belonging to 26 families). 17,18 For DM2, there are currently no established prevalence estimates.…”

Section: Introductionmentioning

confidence: 99%

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

et al. 2011

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Myotonic dystrophy (DM) is the most common adult-onset muscular dystrophy with an estimated prevalence of 1/8000. There are two genetically distinct types, DM1 and DM2. DM2 is generally milder with more phenotypic variability than the classic DM1. Our previous data on co-segregation of heterozygous recessive CLCN1 mutations in DM2 patients indicated a higher than expected DM2 prevalence. The aim of this study was to determine the DM2 and DM1 frequency in the general population, and to explore whether the DM2 mutation functions as a modifier in other neuromuscular diseases (NMD) to account for unexplained phenotypic variability. We genotyped 5535 Finnish individuals: 4532 normal blood donors, 606 patients with various non-myotonic NMD, 221 tibial muscular dystrophy patients and their 176 healthy relatives for the DM2 and DM1 mutations. We also genotyped an Italian idiopathic non-myotonic proximal myopathy cohort (n¼93) for the DM2 mutation. In 5496 samples analyzed for DM2, we found three DM2 mutations and two premutations. In 5511 samples analyzed for DM1, we found two DM1 mutations and two premutations. In the Italian cohort, we identified one patient with a DM2 mutation. We conclude that the DM2 mutation frequency is significantly higher in the general population (1/1830; P-value¼0.0326) than previously estimated. The identification of DM2 mutations in NMD patients with clinical phenotypes not previously associated with DM2 is of particular interest and is in accord with the high overall prevalence. On the basis of our results, DM2 appears more frequent than DM1, with most DM2 patients currently undiagnosed with symptoms frequently occurring in the elderly population.

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“…Prevalence varies but generally ranges from 1/8,000-1/50,000 in European and Japanese populations . High prevalence has been reported in different regions of the world, such as Northeastern Quebec, Canada (Bouchard et al, 1989), and Istria, Croatia (Medica et al, 2004), with a founder effect. Based on the paucity of DM1 in sub-Saharan ethnic populations, it was postulated that the DM1 mutation occurred after human migration out of Africa (Ashizawa & Epstein, 1991).…”

Section: Origin and Distribution Of The Ctg Repeat Polymorphismmentioning

confidence: 99%

Myotonic Dystrophy Type 1 (DM1): From the Genetics to Molecular Mechanisms

Magaña¹,

Cisneros²

2012

Muscular Dystrophy

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Origin and Diffusion of the Myotonic Dystrophy Gene in the Saguenay Region (Quebec)

Cited by 32 publications

References 2 publications

Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?

Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

Myotonic Dystrophy Type 1 (DM1): From the Genetics to Molecular Mechanisms

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