ArticleJournal of medical genetics1994
On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis.
Article in Journal of medical genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 108 citations in OpenAlex.
- A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?Journal of genetic counseling · 2025Review
- Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting.European journal of medical research · 2024Article
- DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy.Open medicine (Warsaw, Poland) · 2024Article
- Article
- Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients.Journal of applied genetics · 2021Article
- Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing.Molecular genetics & genomic medicine · 2021Article
- Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction.Frontiers in genetics · 2021Article
- Comparison of Carrier andFrontiers in neurology · 2021Article
- When the Lyon(ized chromosome) roars: ongoing expression from an inactive X chromosome.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017Review
- Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene.Journal of human genetics · 2017Article
- Androgen receptor agonists increase lean mass, improve cardiopulmonary functions and extend survival in preclinical models of Duchenne muscular dystrophy.Human molecular genetics · 2017Article
- Gene therapies that restore dystrophin expression for the treatment of Duchenne muscular dystrophy.Human genetics · 2016Review
- DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.PloS one · 2015Article
- Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.Journal of human genetics · 2014Article
- Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.Human molecular genetics · 2013Article
- Risk assessment and genetic counseling in families with Duchenne muscular dystrophy.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2012Article
- The ongoing dissection of the genetic architecture of autistic spectrum disorder.Molecular autism · 2011Article
- Parent-of-origin effects in SOX2 anophthalmia syndrome.Molecular vision · 2011Article
- Understanding what determines the frequency and pattern of human germline mutations.Nature reviews. Genetics · 2009Review
- Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.Journal of child neurology · 2009Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We present the results of a study of the rate and origin of mutations in Duchenne muscular dystrophy (DMD). Depending on the type of mutation (deletion/duplication or point mutation) present in the patient, there are widely varying ratios of male to female mutation rates. In deletions, the male mutation rate is only 30% of the female one. In non-deletional/non-duplicational mutations (presumably containing a high proportion of point mutations) the male mutation rate is at least 2.2 as high as the female one and probably much higher. Allowing for the presence of autosomal recessive phenocopies we find that k in non-deletional/non-duplicational mutations is 40.3. These findings mean that the vast majority of deletions arise in oogenesis, while most point mutations stem from spermatogenesis. Previous investigations have shown that in other diseases and genes, most notably haemophilia B and A, but also the ZFY and ZFX genes, the male mutation rate for point mutations tends to be higher than the female one. Our results can be seen as a confirmation of this for the special case of DMD. The influence on risk figures is considerable. As an example, the risk of the mother of an isolated case of DMD without an apparent structural anomaly of the gene of being a carrier increases from 67% to at least 76%. Given the estimate of 40.3 for k, allowing for the presence of autosomal recessive phenocopies mentioned above, it increases even further to 98%. However, as confidence intervals are still large, more data are needed to improve the estimates. Germinal mosaicism in this context is discussed.
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