Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

BACKGROUND Osteogenesis Imperfecta (OI) is a heritable connective tissue disorder mainly caused by mutations in the genes COL1A1 and COL1A2 and is associated with hearing loss in approximately half of the cases. The hearing impairment usually starts between the second and fourth decade of life as a conductive hearing loss, frequently evolving to mixed hearing loss thereafter. A minority of pati...

Audiological findings in osteogenesis imperfecta.

BACKGROUND Osteogenesis imperfecta (OI) is an inherited bone and connective tissue disorder associated with the lifelong occurrence of frequent fractures following even mild trauma. Hearing loss is frequently reported in patients with OI. PURPOSE This investigation is a retrospective study of measurements of tympanometry, acoustic reflexes, and transient evoked otoacoustic emissions in a samp...

Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta

BACKGROUND Osteogenesis imperfecta (OI) is a congenital disorder characterized by increased bone fragility and low bone mass. METHODS The presence of COL1A1 or COL1A2 mutation was investigated by direct sequencing in 72 patients with OI type I, III, or IV (27 males and 45 females; age range 0.2-62 years) from 37 unrelated families. The clinical features of these patients were also recorded. ...

Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta

Osteogenesis imperfecta, discussed in Baldridge et al. 2008 is an inherited bone fragility disorder with a wide range of clinical severity that in the majority of cases is caused by mutations in COL1A1 or COL1A2, the genes that encode the two collagen type I alpha chains. Here we describe genotype-phenotype correlations in OI patients who have mutations affecting collagen type I. This paper is ...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation