Author pages are created from data sourced from our academic publisher partnerships and public sources.
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
We took advantage of overlapping interstitial deletions at chromosome 8p11–p12 in two individuals with contiguous gene syndromes and defined an interval of roughly 540 kb associated with a dominant… Expand
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
Usher syndrome type I (USH1) is the most frequent cause of hereditary deaf-blindness in humans. Seven genetic loci (USH1A-G) have been implicated in this disease to date, and four of the… Expand
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy
Auditory neuropathy is a particular type of hearing impairment in which neural transmission of the auditory signal is impaired, while cochlear outer hair cells remain functional. Here we report on… Expand
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11
Hearing loss is the most frequent sensorineural disorder affecting 1 in 1000 newborns. In more than half of these babies, the hearing loss is inherited. Hereditary hearing loss is a very… Expand
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
- S. Delmaghani, Asadollah Aghaie, Nicolas Michalski, C. Bonnet, D. Weil, C. Petit
- Medicine, Biology
- Human molecular genetics
- 1 September 2012
We report a consanguineous Iranian family affected by congenital profound sensorineural deafness segregating in an autosomal recessive mode. Auditory tests implicated at least a cochlear defect in… Expand
Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes
A deficiency in pejvakin, a protein of unknown function, causes a strikingly heterogeneous form of human deafness. Pejvakin-deficient (Pjvk(-/-)) mice also exhibit variable auditory phenotypes.… Expand
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
- S. Delmaghani, Asadollah Aghaie, +9 authors C. Petit
- Biology, Medicine
- American journal of human genetics
- 2 June 2016
By genetic linkage analysis in a large consanguineous Iranian family with eleven individuals affected by severe to profound congenital deafness, we were able to define a 2.8 Mb critical interval (at… Expand
High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.
- Mariem Ben Saïd, M. Hmani-Aifa, +10 authors S. Masmoudi
- Biology, Medicine
- Genetic testing and molecular biomarkers
- 26 June 2010
Founder mutations, particularly 35delG in the GJB2 gene, have to a large extent contributed to the high frequency of autosomal recessive nonsyndromic hearing loss (ARNSHL). Mutations in transmembrane… Expand
Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome
- D. Dulon, Samantha Papal, +17 authors A. El-Amraoui
- The Journal of clinical investigation
- 1 August 2018
Clarin-1, a tetraspan-like membrane protein defective in Usher syndrome type IIIA (USH3A), is essential for hair bundle morphogenesis in auditory hair cells. We report a new synaptic role for… Expand