Whole exome sequencing, in silico and functional studies confirm the association of the GJB2 mutation p.Cys169Tyr with deafness and suggest a role for the TMEM59 gene in the hearing process.
Saudi J Biol Sci
; 28(8): 4421-4429, 2021 Aug.
Article
en En
| MEDLINE
| ID: mdl-34354426
ARNSHL, autosomal recessive non-syndromic hearing loss; Actb, Actin beta; BAM, Binary Alignment Map; BWA, Burrows-Wheeler Aligner; C1QTNF9, C1q and TNF related 9; Cx26, Connexin 26; ESRRAP2, Estrogen-Related Receptor Alpha Pseudogene 2; GJB2 gene; GJB2, Gap Junction Protein Beta 2; HHLA1, HERV-H LTR-Associating 1; HL, Hearing loss; KCNQ3, Potassium Voltage-Gated Channel Subfamily Q Member 3; Missense mutation; NGS, next generation sequencing; NSHL, Non-syndromic hearing loss; Non-syndromic hearing loss; PROVEAN, Protein Variation Effect Analyzer; PolyPhen-2, Polymorphism Phenotyping v2; RFLP, restriction fragment length polymorphism; ROH, runs of homozygosity; RT-PCR, reverse transcription PCR; RT-qPCR, quantitative reverse transcription PCR; SAM, Sequence Alignment/Map; SIFT, Sorting Intolerant From Tolerant; SJL, Swiss Jim Lambert; SPATA13, Spermatogenesis Associated 13; ST3GAL1, ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 1; TMEM59, Transmembrane Protein 59; UAE, United Arab Emirates; VariMAT, Variation and Mutation Annotation Toolkit; WES, Whole exome sequencing; Whole exome sequencing; dpSNP, Single Nucleotide Polymorphism Database; gEAR, gene Expression Analysis Resource; gnomAD, genome aggregation database; qPCR, quantitative PCR
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Tipo de estudio:
Risk_factors_studies
Idioma:
En
Revista:
Saudi J Biol Sci
Año:
2021
Tipo del documento:
Article
País de afiliación:
Emiratos Árabes Unidos