دورية أكاديمية
أعرض في EDS

The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees.

التفاصيل البيبلوغرافية
العنوان: The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees.
المؤلفون: Chiong CM; Philippine National Ear Institute.; Newborn Hearing Screening Reference Center.; Department of Otorhinolaryngology., Reyes-Quintos MRT; Philippine National Ear Institute.; Newborn Hearing Screening Reference Center.; University of the Philippines Manila-National Institutes of Health.; Department of Otorhinolaryngology., Yarza TKL; Philippine National Ear Institute.; Newborn Hearing Screening Reference Center., Tobias-Grasso CAM; MED-EL, Innsbruck, Austria., Acharya A; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Mohlke KL; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina., Mayol NL; Office of Population Studies Foundation.; Department of Anthropology, Sociology and History, University of San Carlos, Cebu, Philippines., Cutiongco-de la Paz EM; University of the Philippines Manila-National Institutes of Health.; Department of Pediatrics, University of the Philippines Manila-Philippine General Hospital, Manila., Santos-Cortez RLP; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado.
المصدر: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology [Otol Neurotol] 2018 Sep; Vol. 39 (8), pp. e726-e730.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 100961504 Publication Model: Print Cited Medium: Internet ISSN: 1537-4505 (Electronic) Linking ISSN: 15317129 NLM ISO Abbreviation: Otol Neurotol Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Hagerstown, MD : Lippincott Williams & Wilkins, c2001-
مواضيع طبية MeSH: Cochlear Implantation* , Cochlear Implants* , Mutation*, Hearing Loss/*genetics , Sulfate Transporters/*genetics, Adolescent ; Alleles ; Child ; Child, Preschool ; Exons ; Female ; Gene Frequency ; Hearing Loss/surgery ; Humans ; Infant ; Male ; Philippines
مستخلص: Hypothesis: Variants in SLC26A4 are an important cause of congenital hearing impairment in the Philippines.
Background: 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.
Methods: 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.
Results: Four cochlear implantees with bilaterally enlarged vestibular aqueducts (EVA) were homozygous for the pathogenic SLC26A4 c.706C>G (p.Leu236Val) variant, which has a minor allele frequency of 0.0015 in Filipino controls. In patients with the SLC26A4 variant there was no association between cochlear implant outcome and age at implantation or duration of implant. There was also no association between the occurrence of the SLC26A4 variant and postsurgical audiometric thresholds and parents' evaluation of aural/oral performance of children (PEACH) scores. On the other hand, the SLC26A4 variant increased presurgical median audiometric thresholds (p = 0.01), particularly at 500 to 2000 Hz.
Conclusion: The SLC26A4 c.706C>G (p.Leu236Val) variant is a frequent cause of congenital hearing impairment in Filipinos and is associated with bilateral EVA and increased presurgical audiometric thresholds, but does not adversely affect post-implant outcomes.
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معلومات مُعتمدة: P30 ES010126 United States ES NIEHS NIH HHS; R01 DC011651 United States DC NIDCD NIH HHS; P20 RR020649 United States RR NCRR NIH HHS; R01 TW005596 United States TW FIC NIH HHS; R01 DC003594 United States DC NIDCD NIH HHS; R01 HL085144 United States HL NHLBI NIH HHS; P30 DK056350 United States DK NIDDK NIH HHS; R01 TW008288 United States TW FIC NIH HHS; R01 DK078150 United States DK NIDDK NIH HHS
المشرفين على المادة: 0 (SLC26A4 protein, human)
0 (Sulfate Transporters)
تواريخ الأحداث: Date Created: 20180817 Date Completed: 20191114 Latest Revision: 20191114
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC6097524
DOI: 10.1097/MAO.0000000000001893
PMID: 30113565
قاعدة البيانات: MEDLINE
الوصف
تدمد:1537-4505
DOI:10.1097/MAO.0000000000001893