biostudies-literatureChiong CMNCRR NIH HHSNIDDK NIH HHSFIC NIH HHSNIEHS NIH HHSNIDCD NIH HHSNHLBI NIH HHSe726-e730https://www.ebi.ac.uk/biostudies/studies/S-EPMC6097524biostudies-literatureUnknown39(8)<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 (pOtology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyThe SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees.PMC6097524P30 DK056350R01 DC003594R01 TW005596R01 DC011651R01 TW008288P30 ES010126R01 HL085144R01 DK078150P20 RR020649Acharya AMayol NLSantos-Cortez RLPReyes-Quintos MRTTobias-Grasso CAMCutiongco-de la Paz EMMohlke KLLeal SMChiong CMYarza TKLfalseThe SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees.<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 (p2018-01-01T00:00:00Z2018 Sep2026-04-30T03:00:52.299Z2025-07-01T03:05:33.174ZS-EPMC60975243011356510.1097/mao.000000000000189310.1097/MAO.0000000000001893