ERS4093416
SRA accession
DFNA60
Unique Name Prefix
Human
http://purl.obolibrary.org/obo/NCBITaxon_9606
common name
DFNA58 UNAFFECTED_SAMPLE_2 - DNA FROM BLOOD
description
Brazil
geographic location (country and/or sea)
São Paulo
geographic location (region and locality)
DNA from whole blood
material
random
mating type
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
scientific name
NORMAL HEARING INDIVIDUAL
subject
Through CNV analysis of data from exome sequencing, MLPA (multiplex ligation-dependent probe amplification) and RT-qPCR, we revealed the gene responsible for DFNA58 HL: 20 affected family members inherited a duplication including two entire genes, CNRIP1 and PLEK, and exon 1 from PPP3R1. Overexpression of CNRIP1 because of this rare genomic duplication was dectected in all duplication carriers tested but not in noncarriers.
submission description
GSB-2879
submission identifier
Identification of a novel deafness gene: functional studies of candidate genes to DFNA58 locus
submission title