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SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization

DC Field Value Language
dc.contributor.author이승태-
dc.contributor.author한진우-
dc.date.accessioned2021-01-19T07:58:19Z-
dc.date.available2021-01-19T07:58:19Z-
dc.date.issued2020-11-
dc.identifier.issn0964-6906-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/181397-
dc.description.abstractFoveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutations. SLC38A8 is a putative glutamine transporter with strong expression within the photoreceptor layer in the retina. Previous studies have been limited due to lack of quantitative data on retinal development and nystagmus characteristics. In this multi-centre study, a custom-targeted next generation sequencing (NGS) gene panel was used to identify SLC38A8 mutations from a cohort of 511 nystagmus patients. We report 16 novel SLC38A8 mutations. The sixth transmembrane domain is most frequently disrupted by missense SLC38A8 mutations. Ninety percent of our cases were initially misdiagnosed as PAX6-related phenotype or ocular albinism prior to NGS. We characterized the retinal development in vivo in patients with SLC38A8 mutations using high-resolution optical coherence tomography. All patients had severe grades of arrested retinal development with lack of a foveal pit and no cone photoreceptor outer segment lengthening. Loss of foveal specialization features such as outer segment lengthening implies reduced foveal cone density, which contributes to reduced visual acuity. Unlike other disorders (such as albinism or PAX6 mutations) which exhibit a spectrum of foveal hypoplasia, SLC38A8 mutations have arrest of retinal development at an earlier stage resulting in a more under-developed retina and severe phenotype.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherIRL Press at Oxford University Press-
dc.relation.isPartOfHUMAN MOLECULAR GENETICS-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.titleSLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Laboratory Medicine (진단검사의학교실)-
dc.contributor.googleauthorHelen J Kuht-
dc.contributor.googleauthorJinu Han-
dc.contributor.googleauthorGail D E Maconachie-
dc.contributor.googleauthorSung Eun Park-
dc.contributor.googleauthorSeung-Tae Lee-
dc.contributor.googleauthorRebecca McLean-
dc.contributor.googleauthorViral Sheth-
dc.contributor.googleauthorMichael Hisaund-
dc.contributor.googleauthorBasu Dawar-
dc.contributor.googleauthorNicolas Sylvius-
dc.contributor.googleauthorUsman Mahmood-
dc.contributor.googleauthorFrank A Proudlock-
dc.contributor.googleauthorIrene Gottlob-
dc.contributor.googleauthorHyun Taek Lim-
dc.contributor.googleauthorMervyn G Thomas-
dc.identifier.doi10.1093/hmg/ddaa166-
dc.contributor.localIdA04627-
dc.contributor.localIdA04329-
dc.relation.journalcodeJ01008-
dc.identifier.eissn1460-2083-
dc.identifier.pmid32744312-
dc.contributor.alternativeNameLee, Seung-Tae-
dc.contributor.affiliatedAuthor이승태-
dc.contributor.affiliatedAuthor한진우-
dc.citation.volume29-
dc.citation.number18-
dc.citation.startPage2989-
dc.citation.endPage3002-
dc.identifier.bibliographicCitationHUMAN MOLECULAR GENETICS, Vol.29(18) : 2989-3002, 2020-11-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers

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