Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment

Gene

Volumn 527, Issue 2, 2013, Pages 537-540

  Bonnet, C ^a,b,c   Louha, M ^b,d   Loundon, N ^d   Michalski, N ^b   Verpy, E ^b   Smagghe, L ^a,b,c   Hardelin, J P ^b   Rouillon, I ^d   Jonard, L ^b,d   Couderc, R ^b,d   Gherbi, S ^c,d   Garabedian, E N ^b,c,d   Denoyelle, F ^b,c,d   Petit, C ^a,b,c,e   Marlin, S ^b,d  

^a INSTITUT DE LA VISION   (France)

^b Institut Pasteur   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^e Hôpitaux de Paris ^*  (France)

Author keywords

Deep RNA sequencing; Exome sequencing; Hearing impairment; Inner ear; Otoacoustic emissions; Otogelin like

Indexed keywords

GLYCOPROTEIN; OTOGELIN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ARTICLE; CASE REPORT; COCHLEA DUCT; DNA SEQUENCE; EXOME; EXON; GENE SEQUENCE; GENOME; GENOTYPE; HAIR CELL; HUMAN; MALE; MOUSE; NONHUMAN; NONSENSE MUTATION; PARENT; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RNA SEQUENCE;

ΜG; ABFB; ABRS; ACPTA; AIR CONDUCTION PURE-TONE AVERAGE; ALPHA-L-ARABINOFURANOSIDASEB-LIKE DOMAIN; AUDITORY BRAINSTEM RESPONSES; BASE PAIR; BP; C-TERMINAL CYSTINE KNOT DOMAIN; C8; COMPUTED TOMOGRAPHY SCAN; CT; CT SCAN; CYSTEINE-RICH DOMAIN; DB; DBSNP; DECIBEL; DEEP RNA SEQUENCING; DEOXYRIBONUCLEIC ACID; DISTORTION PRODUCT OF OTOACOUSTIC EMISSIONS; DNA; DPOAES; EGF-LIKE; EPIDERMAL GROWTH FACTOR-LIKE DOMAIN; EXOME SEQUENCING; GAP JUNCTION BETA-2 PROTEIN; GJB2; HEARING IMPAIRMENT; IHCS; INNER EAR; INNER HAIR CELLS; KHZ; KILO HERTZ; MICROGRAMS; MYO7A; MYOSIN 7A; OHCS; OTOACOUSTIC EMISSIONS; OTOF; OTOFERLIN; OTOG; OTOGELIN; OTOGELIN-LIKE; OTOGL; OUTER HAIR CELLS; SIGNAL PEPTIDE; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM DATABASE; SNP; SP; STEREOCILIN; STRC; TIL; TRYPSIN INHIBITOR-LIKE DOMAIN; VON WILLEBRAND FACTOR-LIKE DOMAIN; VWF;

ALLELES; CHILD, PRESCHOOL; CODON, NONSENSE; HEARING DISORDERS; HUMANS; MALE; MEMBRANE GLYCOPROTEINS;

EID: 84881551766     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.06.044     Document Type: Article

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