Dataset Information

CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.

ABSTRACT: CHARGE syndrome is a rare human disorder caused by mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7). Characteristics of CHARGE are varied and include developmental ear and hearing anomalies. Here we report a novel mouse model of CHD7 dysfunction, termed Looper. The Looper strain harbours a nonsense mutation (c.5690C>A, p.S1897X) within the Chd7 gene. Looper mice exhibit many of the clinical features of the human syndrome, consistent with previously reported CHARGE models, including growth retardation, facial asymmetry, vestibular defects, eye anomalies, hyperactivity, ossicle malformation, hearing loss and vestibular dysfunction. Looper mice display an otosclerosis-like fusion of the stapes footplate to the cochlear oval window and blepharoconjunctivitis but not coloboma. Looper mice are hyperactive and have vestibular dysfunction but do not display motor impairment.

SUBMITTER: Ogier JM

PROVIDER: S-EPMC4026240 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.

Ogier Jacqueline M JM Carpinelli Marina R MR Arhatari Benedicta D BD Symons R C Andrew RC Kile Benjamin T BT Burt Rachel A RA

PloS one 20140519 5

CHARGE syndrome is a rare human disorder caused by mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7). Characteristics of CHARGE are varied and include developmental ear and hearing anomalies. Here we report a novel mouse model of CHD7 dysfunction, termed Looper. The Looper strain harbours a nonsense mutation (c.5690C>A, p.S1897X) within the Chd7 gene. Looper mice exhibit many of the clinical features of the human syndrome, consistent with previously reported CHARG ...[more]

PMID: 24840056

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Project description:ImportanceSurgery and hearing aids have similar outcomes in terms of hearing acuity but differ in terms of cost, aesthetics, and patient quality of life. The cost-effectiveness and budget impact of otosclerosis treatments have never been studied in Europe.ObjectivesTo compare the estimated mean costs per patient over 10 years of surgery vs hearing aids for the treatment of otosclerosis and to estimate the budget impact of an increase in the proportion of patients receiving surgical treatment.Design, setting, and participantsThis economic evaluation analyzed French and European epidemiological data on the surgical management of symptomatic otosclerosis and compared them with data from the literature to build economic models. The analysis was conducted in January 2021.ExposuresTwo care pathways were considered in the treatment of otosclerosis, either hearing aid or surgery.Main outcomes and measuresCosts were studied over 10 years using Markov models of the 2 care pathways (hearing aid vs surgery). The budget impact analysis was performed over 5 and 10 years, assuming a 1-percentage point yearly increase in the proportion of patients receiving surgical treatment.ResultsOver 10 years, the estimated mean cost per patient was significantly lower in the surgery group compared with the hearing aid group (€3446.9 vs €6088.4; mean difference, -€2641.5; 95% CI -€4064.8 to -€1379.4 [US $3913.4 vs US $6912.4; mean difference, -US $2999.0; 95% CI, -US $4614.9 to -US $1566.1]). Increasing surgical treatment by 1 percentage point per year for 10 years would lead to overall savings of €1 762 304 (US $2 000 798) in France, with an increase of €1 322 920 (US $1 501 952) at 10 years for the public health insurance system and a decrease of €3 085 224 (US $3 502 750) at 10 years for patients and private health insurers. Sensitivity analyses showed that these results were robust.Conclusions and relevanceThese results suggest that in France, treating otosclerosis surgically is slightly less expensive over 10 years than using hearing aids, when considering all payers. The proposed models developed in this study could be adjusted to perform the same analysis in other countries.

Dataset Information

CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.

Publications

CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.

Similar Datasets

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