A new osteogenesis imperfecta with improvement over time maps to 11q.
Osteogenesis imperfecta (OI) is basically divided into four clinical types, I-IV. Type IV clearly represents a heterogeneous group of disorders. Here we describe two OI patients in the same family. They would typically be classified as having type IV, but are distinguishable from other OI type IV patients by the improving and resolving course of their disease. Mutation screening did not identify mutations affecting glycine codons or splice sites in the coding regions of the two collagen I genes. Genome-wide screening of DNA samples from the two homozygous patients identified one region of high concordance of homozygosity on chromosome 11 on the long arm (11q23.3-11q24.1).
Kamoun-Goldrat
Agnès
A
Paris Descartes University, Inserm U781, Hôpital Necker-Enfants Malades, Paris Cedex 15, France. agnes.kamoun@yahoo.fr
Pannier
Stéphanie
S
Huber
Céline
C
Finidori
Georges
G
Munnich
Arnold
A
Cormier-Daire
Valérie
V
Le Merrer
Martine
M
D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003094:Collagen / Q000235:genetics; D024042:Collagen Type I / Q000235:genetics; D000090602:Collagen Type I, alpha 1 Chain; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011859:Radiography
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D003094:Collagen