{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chiong CM"],"funding":["NCRR NIH HHS","NIDDK NIH HHS","FIC NIH HHS","NIEHS NIH HHS","NIDCD NIH HHS","NHLBI NIH HHS"],"pagination":["e726-e730"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6097524"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["39(8)"],"pubmed_abstract":["<h4>Hypothesis</h4>Variants in SLC26A4 are an important cause of congenital hearing impairment in the Philippines.<h4>Background</h4>Cochlear implantation is a standard rehabilitation option for congenital hearing impairment worldwide, but places a huge cost burden in lower-income countries. The study of risk factors such as genetic variants that may help determine genetic etiology of hearing loss and also predict cochlear implant outcomes is therefore beneficial.<h4>Methods</h4>DNA samples from 29 GJB2-negative Filipino cochlear implantees were Sanger-sequenced for the coding exons of SLC26A4. Exome sequencing was performed to confirm results.<h4>Results</h4>Four cochlear implantees with bilaterally enlarged vestibular aqueducts (EVA) were homozygous for the pathogenic SLC26A4 c.706C>G (p"],"journal":["Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology"],"pubmed_title":["The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees."],"pmcid":["PMC6097524"],"funding_grant_id":["P30 DK056350","R01 DC003594","R01 TW005596","R01 DC011651","R01 TW008288","P30 ES010126","R01 HL085144","R01 DK078150","P20 RR020649"],"pubmed_authors":["Acharya A","Mayol NL","Santos-Cortez RLP","Reyes-Quintos MRT","Tobias-Grasso CAM","Cutiongco-de la Paz EM","Mohlke KL","Leal SM","Chiong CM","Yarza TKL"],"additional_accession":[]},"is_claimable":false,"name":"The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees.","description":"<h4>Hypothesis</h4>Variants in SLC26A4 are an important cause of congenital hearing impairment in the Philippines.<h4>Background</h4>Cochlear implantation is a standard rehabilitation option for congenital hearing impairment worldwide, but places a huge cost burden in lower-income countries. The study of risk factors such as genetic variants that may help determine genetic etiology of hearing loss and also predict cochlear implant outcomes is therefore beneficial.<h4>Methods</h4>DNA samples from 29 GJB2-negative Filipino cochlear implantees were Sanger-sequenced for the coding exons of SLC26A4. Exome sequencing was performed to confirm results.<h4>Results</h4>Four cochlear implantees with bilaterally enlarged vestibular aqueducts (EVA) were homozygous for the pathogenic SLC26A4 c.706C>G (p","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Sep","modification":"2026-04-30T03:00:52.299Z","creation":"2025-07-01T03:05:33.174Z"},"accession":"S-EPMC6097524","cross_references":{"pubmed":["30113565"],"doi":["10.1097/mao.0000000000001893","10.1097/MAO.0000000000001893"]}}