Article
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).
American journal of human genetics - 1 Mar 1990
Cohn D H, Starman B J, Blumberg B, Byers P H
Abstract excerpt
We have determined that two infants with perinatal lethal osteogenesis imperfecta in one family had the same new dominant point mutation. Although not detected in his dermal fibroblast DNA, the mutation was detected in somatic DNA from the father's hair root bulbs and lymphocytes. The mutation was also detected in the father's sperm, demonstrating that mosaicism in the father's germ line explains recurrence. The...
Topics
- Base Sequence
- Collagen
- DNA
- Female
- Genes, Dominant
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mosaicism
- Mutation
- Oligonucleotide Probes