Grandpaternal mosaicism in a family with isolated haemophilia A.
About one third of cases of haemophilia A have no family history of the disorder, and 20% are thought to be due to a new mutation. In the family reported here, a 3 bp deletion was detected in DNA from the proband at the 3' end of exon 15. Direct sequencing of genomic DNA prepared from blood and buccal cells of the grandfather revealed both normal and mutant sequences, suggesting that he is a mosaic for this mutation. This highlights the usefulness of mutation detection, both for accurate genetic counselling and to determine the origin of new mutations of haemophilia.
Casey
G J
GJ
Molecular Pathology Unit, Institute of Medical and Veterinary Science, Adelaide, South Australia.
Rodgers
S E
SE
Hall
J R
JR
Rudzki
Z
Z
Lloyd
J V
JV
D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D009030:Mosaicism / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree