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dc.contributor.authorMorgan, NV
dc.contributor.authorMorris, MR
dc.contributor.authorCangul, H
dc.contributor.authorGleeson, D
dc.contributor.authorStraatman-Iwanowska, A
dc.contributor.authorDavies, N
dc.contributor.authorKeenan, S
dc.contributor.authorPasha, S
dc.contributor.authorRahman, F
dc.contributor.authorGentle, D
dc.contributor.authorVreeswijk, MPG
dc.contributor.authorDevilee, P
dc.contributor.authorKnowles, MA
dc.contributor.authorCeylaner, S
dc.contributor.authorTrembath, RC
dc.contributor.authorDalence, C
dc.contributor.authorKismet, E
dc.contributor.authorLu, VK
dc.contributor.authorRossbach, HC
dc.contributor.authorGissen, P
dc.contributor.authorTannahill, D
dc.contributor.authorMaher, ER
dc.date.accessioned2019-07-11T15:39:49Z
dc.date.available2019-07-11T15:39:49Z
dc.date.issued2010-02-05
dc.identifier.citationMorgan, N. V., Morris, M. R., Cangul, H., Gleeson, D., Straatman-Iwanowska, A., Davies, N., Keenan, S., Pasha, S., Rahman, F. et al. (2010) Mutations in SLC29a3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease, PLoS Genetics, 6(2), e1000833.en
dc.identifier.pmid20140240
dc.identifier.doi10.1371/journal.pgen.1000833en
dc.identifier.urihttp://hdl.handle.net/2436/622543
dc.description.abstractThe histiocytoses are a heterogeneous group of disorders characterised by an excessive number of histiocytes. In most cases the pathophysiology is unclear and treatment is nonspecific. Faisalabad histiocytosis (FHC) (MIM 602782) has been classed as an autosomal recessively inherited form of histiocytosis with similarities to Rosai-Dorfman disease (RDD) (also known as sinus histiocytosis with massive lymphadenopathy (SHML)). To elucidate the molecular basis of FHC, we performed autozygosity mapping studies in a large consanguineous family and identified a novel locus at chromosome 10q22.1. Mutation analysis of candidate genes within the target interval identified biallelic germline mutations in SLC29A3 in the FHC kindred and in two families reported to have familial RDD. Analysis of SLC29A3 expression during mouse embryogenesis revealed widespread expression by e14.5 with prominent expression in the central nervous system, eye, inner ear, and epithelial tissues including the gastrointestinal tract. SLC29A3 encodes an intracellular equilibrative nucleoside transporter (hENT3) with affinity for adenosine. Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome. Our findings suggest that a variety of clinical diagnoses (H and PHID syndromes, FHC, and familial RDD) can be included in a new diagnostic category of SLC29A3 spectrum disorder. © 2010 Morgan et al.en
dc.description.sponsorshipWellChild, the Wellcome Trust, and Cancer Research UK for financial support. HC was supported by grants from EMBO (ASTF 121.00-2007) and ESF (Frontiers of Functional Genomics, Exchange Grant 2008)en
dc.formatapplication/PDFen
dc.languageeng
dc.language.isoenen
dc.publisherPublic Library of Science (PLoS)en
dc.relation.urlhttps://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1000833en
dc.rightsLicence for published version: Creative Commons Attribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectCell Line, Tumoren
dc.subjectChromosomes, Human, Pair 10en
dc.subjectAnimalsen
dc.subjectHumansen
dc.subjectMiceen
dc.subjectBreast Neoplasmsen
dc.subjectHistiocytosis, Sinusen
dc.subjectSyndromeen
dc.subjectNucleoside Transport Proteinsen
dc.subjectRNA, Small Interferingen
dc.subjectColony-Forming Units Assayen
dc.subjectPhysical Chromosome Mappingen
dc.subjectDNA Mutational Analysisen
dc.subjectFamilyen
dc.subjectCell Proliferationen
dc.subjectGene Expression Regulationen
dc.subjectBase Sequenceen
dc.subjectMutationen
dc.subjectAllelesen
dc.subjectMolecular Sequence Dataen
dc.subjectFemaleen
dc.subjectUrinary Bladder Neoplasmsen
dc.subjectEmbryo, Mammalianen
dc.subjectGenetic Locien
dc.titleMutations in SLC29a3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman diseaseen
dc.typeJournal articleen
dc.identifier.eissn1553-7404
dc.identifier.journalPLoS Geneticsen
dc.date.updated2019-06-24T15:35:38Z
dc.contributor.institutionWellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom.
pubs.place-of-publicationUnited States
dc.date.accepted2010-01-04
rioxxterms.funderEMBO and ESFen
rioxxterms.identifier.projectNF-SI-0507-10379en
rioxxterms.identifier.projectASTF 121.00-2007en
rioxxterms.versionVoRen
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/en
rioxxterms.licenseref.startdate2019-07-11en
dc.source.volume6
dc.source.issue2
dc.source.beginpagee1000833
dc.description.versionPublished version
refterms.dateFCD2019-07-11T15:39:40Z
refterms.versionFCDVoR
refterms.dateFOA2019-07-11T15:39:50Z


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Licence for published version: Creative Commons Attribution 4.0 International
Except where otherwise noted, this item's license is described as Licence for published version: Creative Commons Attribution 4.0 International