A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment...
A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family
About this item
Full title
Author / Creator
Manyisa, Noluthando , Schrauwen, Isabelle , de Souza Rios, Leonardo Alves , Mowla, Shaheen , Tekendo-Ngongang, Cedrik , Popel, Kalinka , Esoh, Kevin , Bharadwaj, Thashi , Nouel-Saied, Liz M. , Acharya, Anushree , Nasir, Abdul , Wonkam-Tingang, Edmond , Kock, Carmen de , Dandara, Collet , Leal, Suzanne M. and Wonkam, Ambroise
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Hearing impairment (HI) is a sensory disorder with a prevalence of 0.0055 live births in South Africa. DNA samples from a South African family presenting with progressive, autosomal dominant non-syndromic HI were subjected to whole-exome sequencing, and a novel monoallelic variant in REST [c.1244GC; p.(C415S)], was identified as the putative causat...
Alternative Titles
Full title
A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8618167
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8618167
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes12111765
