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Somatic mosaicism i...
Somatic mosaicism in hemophilia A: A fairly common event
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Leuer, M. (author)
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Lavergne, J.-M. (author)
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Fregin, A. (author)
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Eigel, A. (author)
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- Ljung, R. (author)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
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Olek, K. (author)
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(creator_code:org_t)
- Elsevier BV, 2001
- 2001
- English 13 s.
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297. ; 69:1, s. 75-87
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http://dx.doi.org/10...
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http://www.cell.com/...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- blood clotting factor 8
- article
- blastocyst
- bleeding disorder
- chromosome inversion
- CpG island
- embryo development
- gene mutation
- germ line
- hemophilia A
- human
- human cell
- inner cell mass
- major clinical study
- mosaicism
- point mutation
- polymerase chain reaction
- priority journal
- risk assessment
- sequence analysis
- somatic cell
Publication and Content Type
- art (subject category)
- ref (subject category)
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