ArticleAmerican journal of human genetics2001
Somatic mosaicism in hemophilia A: a fairly common event.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
25 citing papers in PubMed, 148 citations in OpenAlex.
- Non-Inversion Variants in Sporadic Hemophilia A Rarely Recur.International journal of molecular sciences · 2026Article
- Two decades of prenatal diagnosis in hemophilia A and B: a systematic review of global trends and current practices.Thrombosis journal · 2026Review
- De Novo Noninversion Variants Implicated in Sporadic Hemophilia A: A Variant Origin and Timing Study.International journal of molecular sciences · 2024Article
- Absence of Missense Variant Detection in Inherited Dysfibrinogenemia May Result from a Poor Raw Data Analysis Algorithm or Mosaicism.International journal of molecular sciences · 2023Article
- Insights into the Molecular Genetic of Hemophilia A and Hemophilia B: The Relevance of Genetic Testing in Routine Clinical Practice.Hamostaseologie · 2022Review
- Case Report: Novel pathogenic variant inFrontiers in genetics · 2022Article
- Haemophilia.Nature reviews. Disease primers · 2021Review
- Women with Hemophilia: Case Series of Reproductive Choices and Review of Literature.TH open : companion journal to thrombosis and haemostasis · 2021Article
- Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR.Research and practice in thrombosis and haemostasis · 2020Article
- Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.American journal of medical genetics. Part A · 2017Article
- Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.Molecular genetics & genomic medicine · 2017Article
- Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease.Current genomics · 2015Article
- Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.American journal of human genetics · 2014Article
- In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.Journal of biomedical science · 2012Article
- Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family.Human genetics · 2011Article
- Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain.American journal of medical genetics. Part A · 2010Article
- Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.Human genetics · 2010Article
- Understanding what determines the frequency and pattern of human germline mutations.Nature reviews. Genetics · 2009Review
- Mosaicism in men in hemophilia: is it exceptional? Impact on genetic counselling.Journal of thrombosis and haemostasis : JTH · 2009Article
- Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.Human genetics · 2008Article
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the large gene of clotting factor VIII (FVIII) are the most common events leading to severe human bleeding disorder. The high proportion of de novo mutations observed in this gene raises the possibility that a significant proportion of such mutations does not derive from a single germ cell but instead should be attributed to a germline or somatic mosaic originating from a mutation during early embryogenesis. The present study explores this hypothesis by using allele-specific PCR to analyze 61 families that included members who had sporadic severe hemophilia A and known FVIII gene defects. The presence of somatic mosaicisms of varying degrees (0.2%-25%) could be shown in 8 (13%) of the 61 families and has been confirmed by a mutation-enrichment procedure. All mosaics were found in families with point mutations (8 [25%] of 32 families). In the subgroup of 8 families with CpG transitions, the percentage with mosaicism increased to 50% (4 of 8 families). In contrast, no mosaics were observed in 13 families with small deletions/insertions or in 16 families with intron 22 inversions. Our data suggest that mosaicism may represent a fairly common event in hemophilia A. As a consequence, risk assessment in genetic counseling should include consideration of the possibility of somatic mosaicism in families with apparently de novo mutations, especially families with the subtype of point mutations.
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