2019
DOI: 10.1590/1678-4685-gmb-2017-0318
| View full text |Cite
|
Sign up to set email alerts
|

Abstract: Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous neurosensory disorder, usually characterized by congenital or prelingual hearing loss. We report a Han Chinese male, born to consanguineous parents, presenting with nonsyndromic sensorineural hearing loss, whose clinical phenotype was also consistent with auditory neuropathy spectrum disorder (ANSD). After exome sequencing, a gap junction protein beta 2 gene (GJB2) c.235delC variant in the homozygous state was detected in the… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1
1

Citation Types

0
3
0

Year Published

2020
2020
2024
2024

Publication Types

Select...
6

Relationship

2
4

Authors

Journals

citations
Cited by 9 publications
(3 citation statements)
references
References 19 publications
0
3
0
Order By: Relevance
“…WES of the proband was performed by BGI Genomics, BGI-Shenzhen (Shenzhen, China), as previously described (22,23). The quantified gDNA sample was randomly sheared into fragments by Covaris E220 (Covaris, Inc.) and achieved library fragments between 150 bp and 250 bp.…”
Section: Whole Exome Sequencing (Wes)mentioning
confidence: 99%
“…WES of the proband was performed by BGI Genomics, BGI-Shenzhen (Shenzhen, China), as previously described (22,23). The quantified gDNA sample was randomly sheared into fragments by Covaris E220 (Covaris, Inc.) and achieved library fragments between 150 bp and 250 bp.…”
Section: Whole Exome Sequencing (Wes)mentioning
confidence: 99%
“…Candidate variants were validated by Sanger sequencing. A co-segregation analysis between possible causative variants and this family's HTX phenotype was performed [19]. Paired primer sequences for the candidate variants (c.3426-1G>A and c.4306C>T) in the DNAH11 gene were synthesized respectively as follows: 5 0 -TGTTGCCAGTTTCATGATAGAGA-3 0 and 5 0 -TACAGCCAGAAGATGCACCA-3 0 ; 5 0 -TTCACCAGCCTTTAGGCAAA-3 0 and 5 0 -TCTCAG TCCCCAGCTCTTTC-3 0 .…”
Section: Sanger Sequencing Variant Analysis and Protein Structure Modelingmentioning
confidence: 99%
“…Cx26 consists of an N-terminal helix, four transmembrane helices (TM1-4), two extracellular loops (E1 and E2), a cytoplasmic loop (CL), and a C-terminus [ 19 ]. Cx26 is expressed in the inner ear, which contains SCs, stria vascularis, spiral ligament, and spiral limbus [ 20 ]. Cx26 is associated with proteins that form a transmembrane hexameric gap junction channel known as a connexon.…”
Section: Introductionmentioning
confidence: 99%