Severe haemophilia A in a female resulting from two de novo factor VIII mutations.
Br J Haematol
; 90(4): 906-9, 1995 Aug.
Article
in En
| MEDLINE
| ID: mdl-7669670
ABSTRACT
A 2-year-old girl is described with severe haemophilia A (factor VIII C < 0.01 units/ml). Both of her parents were phenotypically normal. Cytogenetic analysis on the proband demonstrated an interstitial X chromosome deletion encompassing Xq26-q28. Molecular studies with several polymorphic markers close to and within the factor VIII gene showed that the proband had inherited only the paternal factor VIII gene, indicating that the X chromosome deletion had occurred de novo in the maternal germ line. Further study of the factor VIII gene inherited by the proband from her father showed the presence of a de novo gene inversion mutation (a type 1, distal pattern inversion). Neither parent showed any evidence of the factor VIII inversion in their somatic DNA. The severe haemophilia A documented in this girl is therefore the result of two de novo mutations affecting the factor VIII gene, a maternally derived X chromosome deletion and a paternal factor VIII inversion mutation.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Factor VIII
/
Hemophilia A
/
Mutation
Limits:
Female
/
Humans
/
Infant
Language:
En
Journal:
Br J Haematol
Year:
1995
Document type:
Article
Affiliation country:
Canadá