Bi-Allelic Novel Variants in
Adolescent
Adult
Alleles
Base Sequence
Cameroon
Child
Child, Preschool
Chloride Channels
/ genetics
Exome
/ genetics
Family
Female
Genetic Predisposition to Disease
/ genetics
Hearing Loss, Sensorineural
/ genetics
Humans
Microfilament Proteins
/ genetics
Middle Aged
Mutation, Missense
/ genetics
Protein Isoforms
/ genetics
Sequence Analysis, DNA
Exome Sequencing
Young Adult
Africa
CLIC5
non-syndromic hearing impairment
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
23 10 2020
23 10 2020
Historique:
received:
28
09
2020
revised:
20
10
2020
accepted:
20
10
2020
entrez:
29
10
2020
pubmed:
30
10
2020
medline:
24
7
2021
Statut:
epublish
Résumé
DNA samples from five members of a multiplex non-consanguineous Cameroonian family, segregating prelingual and progressive autosomal recessive non-syndromic sensorineural hearing impairment, underwent whole exome sequencing. We identified novel bi-allelic compound heterozygous pathogenic variants in
Identifiants
pubmed: 33114113
pii: genes11111249
doi: 10.3390/genes11111249
pmc: PMC7690789
pii:
doi:
Substances chimiques
CLIC5 protein, human
0
Chloride Channels
0
Microfilament Proteins
0
Protein Isoforms
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : National Institute of Deafness and other Communication Disorders
ID : R01 DC01165, DC003594 and DC016593
Organisme : NIDCD NIH HHS
ID : R01 DC011651
Pays : United States
Organisme : Wellcome Trust
ID : 107755Z/15/Z
Pays : United Kingdom
Organisme : African Academy of Science/Wellcome Trust
ID : H3A/18/001
Organisme : NIDCD NIH HHS
ID : R01 DC003594
Pays : United States
Organisme : NHLBI NIH HHS
ID : U24 HL135600
Pays : United States
Organisme : National Institutes of Health (NHGRI), USA
ID : U01-HG-009716
Organisme : NIDCD NIH HHS
ID : R01 DC016593
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG009716
Pays : United States
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