title: Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment.
abstract: Hearing impairment is characterized by great genetic heterogeneity. We report the identification, by whole exome sequencing, of two different nonsense mutations (c.1558C>T; p.Gln520 and c.2773C>T; p.Arg925) in the otogelin-like gene (OTOGL), in a child affected by mild to moderate isolated deafness. Parental genotypes allowed us to conclude that these mutations are present in the compound heterozygous state in the patient. In addition, our clinical data establish that the tectorial membrane and/or the outer hair cells are defective in this form of deafness.
authors.affiliation: Institut de la Vision, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Bonnet
authors.forename: M
authors.initials: M
authors.lastname: Louha
authors.forename: N
authors.initials: N
authors.lastname: Loundon
authors.forename: N
authors.initials: N
authors.lastname: Michalski
authors.forename: E
authors.initials: E
authors.lastname: Verpy
authors.forename: L
authors.initials: L
authors.lastname: Smagghe
authors.forename: J-P
authors.initials: JP
authors.lastname: Hardelin
authors.forename: I
authors.initials: I
authors.lastname: Rouillon
authors.forename: L
authors.initials: L
authors.lastname: Jonard
authors.forename: R
authors.initials: R
authors.lastname: Couderc
authors.forename: S
authors.initials: S
authors.lastname: Gherbi
authors.forename: E N
authors.initials: EN
authors.lastname: Garabedian
authors.forename: F
authors.initials: F
authors.lastname: Denoyelle
authors.forename: C
authors.initials: C
authors.lastname: Petit
authors.forename: S
authors.initials: S
authors.lastname: Marlin
mesh_terms: D000483:Alleles; D002675:Child, Preschool; D018389:Codon, Nonsense; D000072259:Connexin 26; D017630:Connexins; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D017630:Connexins; C000607042:GJB2 protein, human; D008562:Membrane Glycoproteins; C109902:OTOG protein, human; D000072259:Connexin 26
keywords: ABRs; ACPTA; AbfB; Air conduction pure-tone average; Alpha-l-arabinofuranosidaseB-like domain; Auditory brainstem responses; Base pair; C-terminal cystine knot domain; C8; CT; CT scan; Computed tomography scan; Cysteine-rich domain; DNA; DPOAEs; Deep RNA sequencing; Deoxyribonucleic acid; Distortion product of otoacoustic emissions; EGF-like; Epidermal growth factor-like domain; Exome sequencing; GJB2; Gap junction beta-2 protein; Hearing impairment; IHCs; Inner ear; Inner hair cells; MYO7A; Micrograms; Myosin 7A; OHCs; OTOF; OTOG; OTOGL; Otoacoustic emissions; Otoferlin; Otogelin; Otogelin-like; Outer hair cells; SNP; SP; STRC; Signal peptide; Single Nucleotide Polymorphism Database; Single nucleotide polymorphism; Stereocilin; TIL; Trypsin inhibitor-like domain; bp; dB; dBSNP; decibel; kHz; kilo Hertz; vWF; von Willebrand factor-like domain; μg