Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen |
| |
| Authors: | Charles J Pruchno Daniel H Cohn Gillian A Wallis Marcia C Willing Barbra J Starman Xiaoming Zhang Peter H Byers |
| |
| Institution: | (1) Departments of Medicine, Pediatrics and Pathology and the Center for Inherited Disease, University of Washington, 98195 Seattle, WA, USA;(2) Department of Pediatrics, University of California at Los Angeles, Los Angeles, CA, USA;(3) Division of Medical Genetics, Cedar-Sinai Medical Center, 90048 Los Angeles, CA, USA;(4) Department of Pathology, SM-30, University of Washington, 98195 Seattle, WA, USA |
| |
| Abstract: | Summary Most individuals with osteogenesis imperfecta (OI) are heterozygous for dominant mutations in one of the genes that encode the chains of type I collagen. Each of the more than 30 mutations characterized to date has been unique to the affected member (s) of the family. We have determined that two individuals with a progressive deforming variety of OI, OI type III, have the same new dominant mutation  1(I)gly154 to arg] and that two unrelated infants with perinatal lethal OI, OI type II, share a second new dominant muation 1(I)gly1003 to ser]. These mutations occurred at CpG dinucleotides, in a manner consistent with deamination of a methylated cytosine residue, and raise the possibility that CpG dinucleotides are common sites of recurrent mutations in collagen genes. Further, these findings confirm that the OI type-III phenotype, previously thought to be inherited in an autosomal recessive manner, can result from new dominant mutations in the COL1A1 gene of type-I collagen. |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
