Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

Swinnen, Freya; Coucke, Paul; Paepe, Anne M. De; Symoens, Sofie; Malfait, Fransiska; Gentile, Filomena V; Sangiorgi, Luca; D’Eufemia, P; Celli, Mauro; Garretsen, Ton J. T. M.; Cremers, C.W.R.J.; Dhooge, Ingeborg; Leenheer, Els De

doi:10.1186/1750-1172-6-88

Cited by 54 publications

(61 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Moreover, there was no intra-familial correlation to the pattern of hearing loss (3). This observation has been replicated in other studies, where a genotype-auditory phenotype correlate and an association with other risk factors for hearing loss – including otitis media, skull fracture and noise exposure – were not identified (4). …”

Section: Discussionsupporting

confidence: 66%

“…The hearing loss often begins between the second and fourth decade of life and can be conductive, sensorineural or mixed (3,4,5,6). Clinical and histological data show that individuals with OI can develop otosclerotic like lesions in the temporal bone and otosclerotic lesions are associated with conductive, sensorineural, and mixed hearing loss.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Otopathology in Osteogenesis Imperfecta

Santos¹,

McCall²,

Merchant³

2012

Otology & Neurotology

View full text Add to dashboard Cite

Background Osteogenesis Imperfecta (OI) is a genetic disorder of connective tissue matrix. OI is caused by mutations that affect type I collagen. The hearing loss in OI is characterized by onset in early adulthood and can be conductive, sensorineural or mixed. Objectives To describe the temporal bone histopathology in 9 individuals with OI. Material and Methods Four adult, one pediatric, and four infant specimens were identified. Temporal bones were removed at autopsy and studied by light microscopy. Results All adults and one pediatric specimen showed otosclerotic lesions. The findings included examples of clinical, histologic and cochlear otosclerosis. The temporal bones of infants showed delayed ossification of the endochondral layer of bone and of the ossicles. There were no infant specimens with otosclerotic lesions. Conclusions Hearing loss in OI may be the result of clinical or cochlear otosclerosis. Fracture or atrophy of the ossicles may also be present in OI. A third unidentified mechanism of hearing loss may lead to cochlear degeneration. The described findings of otosclerotic lesions have implications for the observed heterogeneity of hearing loss patterns and for the surgical management of hearing loss in OI.

show abstract

Section: Discussionsupporting

confidence: 66%

Section: Introductionmentioning

confidence: 99%

Otopathology in Osteogenesis Imperfecta

Santos¹,

McCall²,

Merchant³

2012

Otology & Neurotology

View full text Add to dashboard Cite

show abstract

“…Half of patients with osteogenesis imper fecta develop hearing loss, usually between the second and fourth decades of life 190,191 . Conductive deafness is frequently associated with bony changes that affect the oval window region and lead to stapes footplate fixation due to thinning, atrophy and fractures of the stapes and the incus 192 .…”

Section: Cardiovascular Manifestationsmentioning

confidence: 99%

Osteogenesis imperfecta

Marini

Forlino

Bächinger

et al. 2017

Nat Rev Dis Primers

549

582

View full text Add to dashboard Cite

| Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure. In the past decade, (mostly) recessive, dominant and X-linked defects in a wide variety of genes encoding proteins involved in type I collagen synthesis, processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells have been shown to cause osteogenesis imperfecta. The large number of causative genes has complicated the classic classification of the disease, and although a new genetic classification system is widely used, it is still debated. Phenotypic manifestations in many organs, in addition to bone, are reported, such as abnormalities in the cardiovascular and pulmonary systems, skin fragility, muscle weakness, hearing loss and dentinogenesis imperfecta. Management involves surgical and medical treatment of skeletal abnormalities, and treatment of other complications. More innovative approaches based on gene and cell therapy, and signalling pathway alterations, are under investigation. NATURE REVIEWS | DISEASE PRIMERS VOLUME 3 | ARTICLE NUMBER 17052 | 1 PRIMER © 2 0 1 7 M a c m i l l a n P u b l i s h e r s L i m i t e d , p a r t o f S p r i n g e r N a t u r e . A l l r i g h t s r e s e r v e d .In this Primer, we provide an overview of epidemio logy, genetics and pathophysiology of osteogenesis imperfecta, as well as diagnosis and management. EpidemiologyStudies from Europe and the United States have found a birth prevalence of osteogenesis imperfecta of 0.3-0.7 per 10,000 births 5,6 . These birth cohort analyses reflect more severe types of osteogenesis imperfecta and do not include more subtle types that become apparent after birth. A population based study that used the Danish National Patient Register found an annual incidence of osteogenesis imperfecta of 1.5 per 10,000 births between 1997 and 2013 (REF. 7). Population surveys in countries with comprehensive medical databases, such as Finland, estimated a prevalence of about 0.5 per 10,000 individ uals 8 , with most having phenotypically milder osteo genesis imperfecta type I and type IV (BOX 1; TABLE 1). Because these birth cohort and population surveys are based on clinical findings and tend to find mutu ally exclusive populations, a reasonable estimate of the incidence of osteogenesis imperfecta is about 1 per 10,000 individuals. Most patients are heterozygous for mutations in COL1A1 or COL1A2. No difference in the prevalence between sexes was reported.Approximately 90% of the 3,000 individuals whose mutations ha...

show abstract

“…Tympano-cochlear scintigraphy suggested increased bone metabolism in this region. No relationship is reported between hearing deficits in OI and type I collagen mutations [172].…”

Section: Hearing Loss In Osteogenesis Imperfectamentioning

confidence: 97%

Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional Causes of Adult Osteoporosis

Shapiro

2013

Osteoporosis

View full text Add to dashboard Cite

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

Cited by 54 publications

References 24 publications

Otopathology in Osteogenesis Imperfecta

Otopathology in Osteogenesis Imperfecta

Osteogenesis imperfecta

Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional Causes of Adult Osteoporosis

Contact Info

Product

Resources

About