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Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene

dc.rights.licenseopenen_US
dc.contributor.authorMONFERME, S.
dc.contributor.authorLASSEAUX, E.
dc.contributor.authorDUNCOMBE-POULET, C.
dc.contributor.authorHAMEL, C.
dc.contributor.authorDEFOORT-DHELLEMMES, S.
dc.contributor.authorDRUMARE, I.
dc.contributor.authorZANLONGHI, X.
dc.contributor.authorDOLLFUS, H.
dc.contributor.authorPERDOMO, Y.
dc.contributor.authorBONNEAU, D.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorKOROBELNIK, Jean-Francois
ORCID: 0000-0002-4438-9535
IDREF: 028739272
dc.contributor.authorPLAISANT, C.
dc.contributor.authorMICHAUD, Vincent
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorPENNAMEN, Perrine
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorROORYCK-THAMBO, Caroline
dc.contributor.authorMORICE-PICARD, F.
dc.contributor.authorPAYA, C.
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorARVEILER, Benoit
dc.date.accessioned2020-07-01T09:40:37Z
dc.date.available2020-07-01T09:40:37Z
dc.date.issued2019-09
dc.identifier.issn1468-2079 (Electronic) 0007-1161 (Linking)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/8386
dc.description.abstractEnAIM: Oculocutaneous albinism type 1 (OCA1) is due to TYR mutations. c.1205G>A/p.Arg402Gln (R402Q) is a thermosensitive variant of the TYR gene that has been reported to be responsible for mild forms of OCA1. The aim of our study was to define the phenotype associated with this variant. METHODS: In our retrospective series, among 268 patients diagnosed with OCA1, 122 (45.5%) harboured one pathogenic variant of TYR, and the R402Q variant ensured to be in trans by segregation analysis in 69 patients (25.7%), constituting the 'R402Q-OCA1' group. 146 patients harboured two pathogenic variants of the TYR gene other than R402Q. Clinical records were available for 119 of them, constituting the 'Classical-OCA1' group. RESULTS: Most R402Q-OCA1 patients presented with white or yellow-white hair at birth (71.43%), blond hair later (46.97%), a light phototype but with residual pigmentation (69.64%), and blue eyes (76.56%). Their pigmentation was significantly higher than in the classical-OCA1 group. All patients from the R402Q-OCA1 group presented with ocular features of albinism. However the prevalence of photophobia (78.13%) and iris transillumination (83.87%) and the severity scores of iris transillumination, retinal hypopigmentation and foveal hypoplasia were lower in the R402Q-OCA1 group. Visual acuity was higher in the R402Q-OCA1 group (0.38+/-0.21 logarithm of the minimum angle of resolution vs 0.76+/-0.24). Investigations concerning a possible additive effect of the c.575C>A/p.Ser192 (S192Y) variant of TYR in cis with R402Q, suggested by others, showed no significant impact on the phenotype. CONCLUSION: The R402Q variant leads to variable but generally mild forms of albinism whose less typical presentation may lead to underdiagnosis.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States
dc.rights.urihttps://creativecommons.org/licenses/by/3.0/us/
dc.subject.enLEHA
dc.title.enMild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene
dc.title.alternativeBr J Ophthalmolen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1136/bjophthalmol-2018-312729en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed30472657en_US
bordeaux.journalThe British journal of ophthalmologyen_US
bordeaux.page1239-1247en_US
bordeaux.volume103en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - U1219en_US
bordeaux.issue9en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.teamLEHA_BPH
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.exportfalse
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