A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22–24

  title={A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22–24},
  author={Kris Van Den Bogaert and Els De Leenheer and W Chen and Y Lee and Peter J. N{\"u}rnberg and R J E Pennings and Kathleen Vanderstraeten and Melissa Thys and Cor W.R.J. Cremers and R J Smith and Guy Van Camp},
  journal={Journal of Medical Genetics},
  pages={450 - 453}
Otosclerosis is caused by abnormal bone homeostasis of the otic capsule leading to bony fixation of the stapedial footplate in the oval window. Because the transmission of sound waves from outer to inner ear is disturbed by this fixation, the disease is characterised by conductive hearing impairment.1 In some cases, an additional sensorineural component develops across all frequencies, leading to mixed hearing impairment.2,3 The conductive component of the hearing impairment can be restored by… 

A new locus for otosclerosis, OTSC10, maps to chromosome 1q41–44

A new large Dutch otosclerosis family with autosomal dominant inheritance was investigated and a new locus for otos sclerosis on chr1q41–44 was identified, named OTSC10, which has a candidate region of 26.1 Mb and contains 306 genes/gene predictions based on the latest draft of the human genome sequence.

A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13–16.1

A genome-wide linkage study was performed in a large Greek pedigree segregating autosomal dominant otosclerosis, and a seventh locus, OTSC7, was localized on chromosome 6q13–16 with a multipoint LOD score of 7.1.

Clinical and genetic analysis of two Tunisian otosclerosis families

Two new autosomal dominant otosclerosis families from Tunisia are analyzed and microsatellite markers for the known loci, the collagen genes COL1A1 andCOL1A2, and NOG gene show suggestive linkage to the OTSC3 region on chromosome 6p21.3–p22.3.

Genetics of otosclerosis: finally catching up with other complex traits?

Otosclerosis is a relatively common cause of hearing impairment, characterized by abnormal bone remodeling of the middle and inner ear. In about 50–60% of the patients, the disease is present in a

The rs39335 polymorphism of the RELN gene is not associated with otosclerosis in a southern Italian population

  • S. IossaV. Corvino A. Franzè
  • Medicine, Biology
    Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale
  • 2013
SUMMARY Otosclerosis, the single most common cause of hearing impairment in white adults, is characterised by bone dystrophy localized to the otic capsule and isolated endochondral bone sclerosis

A molecular and genetic analysis of otosclerosis

Examination of the molecular and genetic basis of otosclerosis using two next generation sequencing technologies; RNA-sequencing and Whole Exome Sequencing identifies multiple variants predicted to be involved in splicing within genes involved in the bone disorder Osteogenesis Imperfecta, indicating a shared genetic aetiology for this condition and otos sclerosis.

Genetics of Otosclerosis

  • M. ThysG. Camp
  • Medicine
    Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
  • 2009
The genetics of otosclerosis is reviewed with special attention for the links to the bone homeostasis of the otic capsule, showing that the TGF-&bgr;1 pathway is most likely an important factor in the pathogenesis of Otosclerosis.

A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9

This study presents the results of a genome-wide linkage analysis in a large Tunisian family segregating autosomal dominant otosclerosis, and localised the responsible gene to chromosome 9p13.1-9q21 with a maximal LOD score of 4.13, and this locus was named OTSC8.

The Genetics of otosclerosis

The etiology of otosclerosis: A combination of genes and environment

A variety of pathways have been identified to be involved in the development of otosclerosis, showing that distinct mechanisms involving both genetic and environmental risk factors can influence and contribute to a similar disease outcome.



A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36.

Otosclerosis due to abnormal bone homeostasis of the otic capsule is a frequent cause of hearing loss in adults. Usually, the hearing loss is conductive, resulting from fixation of the stapedial

Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3

A genome wide linkage study on a large Cypriot family segregating otosclerosis identifies a third locus, OTSC3, on chromosome 6p, consistent with reported associations between HLA-A/HLA-B antigens and otos sclerosis.

Localization of a gene for otosclerosis to chromosome 15q25-q26.

A large multi-generational family in which otosclerosis has been inherited in an autosomal dominant pattern is studied, and genetic linkage analysis using short tandem repeat polymorphisms (STRPs) distributed over the entire genome found the disease-causing gene.

Prevalence of Otosclerosis in an Unselected Series of Temporal Bones

The gross observation of temporal bone slices combined with microradiography was used to screen for otosclerotic lesions more rapidly and with a lower cost/benefit ratio than previous studies based on laboratory collections.

Otosclerosis: The University of Minnesota Temporal Bone Collection

A study of 1452 human temporal bones revealed a previously unpublished material of 144 bones with otosclerosis, showing a positive correlation when the size of the lesions, activity, and degree of cochlear endosteal involvement were compared with bone conduction thresholds, and not suggestive of an association of sensorineural hearing loss with Otosclerosis without stapedial fixation.

Sensorineural Hearing Loss in Stapedial Otosclerosis

It is considered that individuals with stapedial otosclerosis do not in general have elevated bone conduction thresholds compared with control subjects, however, there was a suggestion that there may be a small, progressive elevation of bone Conduction thresholds in older patients.

Mixed hearing loss in otosclerosis: indication for long-term follow-up.

This retrospective study of 146 ears with long-term follow-up after otosclerosis surgery evaluated the stability of hearing results, the incidence of sensorineural hearing loss, and the effect of fluoride treatment, indicating that a mixed hearing loss at surgery is a factor that increases the risk of later profound cochlear loss.

Revision stapes surgery

A retrospective review of 559 consecutive stapes operations performed by the author reveals that the most common cause for revision surgery was displaced prostheses and incus necrosis, which is comparable with previously reported studies.

A comprehensive genetic map of the human genome based on 5,264 microsatellites

The last version of the Généthon human linkage map is reported, which consists of 5,264 short tandem repeat polymorphisms with a mean heterozygosity of 70%.

PCOLCE2 Encodes a Functional Procollagen C-Proteinase Enhancer (PCPE2) That Is a Collagen-binding Protein Differing in Distribution of Expression and Post-translational Modification from the Previously Described PCPE1*

Both PCPE1 and PCPE2 were found to be collagen-binding proteins, capable of binding at multiple sites on the triple helical portions of fibrillar collagens and also capable of competing for such binding with procollagen C-proteinases.