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dc.contributor.authorNeocleous, Vassosen
dc.contributor.authorYiallouros, Panayiotis K.en
dc.contributor.authorTanteles, George A.en
dc.contributor.authorCosti, Constantinaen
dc.contributor.authorMoutafi, Mariaen
dc.contributor.authorIoannou, Phivosen
dc.contributor.authorPatsalis, Philippos C.en
dc.contributor.authorSismani, Carolinaen
dc.contributor.authorPhylactou, Leonidas A.en
dc.creatorNeocleous, Vassosen
dc.creatorYiallouros, Panayiotis K.en
dc.creatorTanteles, George A.en
dc.creatorCosti, Constantinaen
dc.creatorMoutafi, Mariaen
dc.creatorIoannou, Phivosen
dc.creatorPatsalis, Philippos C.en
dc.creatorSismani, Carolinaen
dc.creatorPhylactou, Leonidas A.en
dc.date.accessioned2018-06-22T09:54:08Z
dc.date.available2018-06-22T09:54:08Z
dc.date.issued2014
dc.identifier.urihttps://gnosis.library.ucy.ac.cy/handle/7/42207
dc.description.abstractWe report a classic cystic fibrosis (CF) boy with a large deletion of exons 4-11 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on one allele and p.Phe508del in exon 10 on the second allele. Both parents of Georgian and Ukrainian background had no personal or family history of the disease. The initial molecular diagnostic investigation identified the patient as homozygous for the p.Phe508del and not compatible with his parent's genetic status. The possibility of nonpaternity or uniparental disomy (UPD7) was investigated and excluded using microsatellite analysis of highly polymorphic markers on chromosome 7. Array-CGH was also performed on the patient and revealed a male profile with a subtle deletion within the CFTR gene on the long arm (q-arm) of chromosome 7 (7q31.2). The deletion was confirmed by MLPA extending from probe L02380 to probe L14978 (28.7 kb) and that was inherited from his father, while p.PheF508del was inherited from his mother. These data highlight the need for additional testing for large deletions in patients with apparent homozygosity for a mutated CFTR allele that do not match the carrier status of the parents. Not testing can lead to misdiagnosis and misinterpretation of mutation carrier status and the expected penetrance of the disorder. ABSTRACT FROM AUTHOR]; Copyright of Case Reports in Genetics is the property of Hindawi Limited and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)en
dc.publisherHindawi Limiteden
dc.source.urihttp://search.ebscohost.com/login.aspx?direct=true&db=a9h&AN=100520318&site=ehost-live
dc.subjectAllelesen
dc.subjectCystic fibrosisen
dc.subjectCystic fibrosis transmembrane conductance regulatoren
dc.subjectHomozygosityen
dc.subjectHuman chromosome abnormalitiesen
dc.subjectPatientsen
dc.titleApparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11en
dc.typeinfo:eu-repo/semantics/report
dc.description.startingpage1
dc.description.endingpage4
dc.author.facultyΙατρική Σχολή / Medical School
dc.type.uhtypeReporten
dc.contributor.orcidYiallouros, Panayiotis K. [0000-0002-8339-9285]
dc.contributor.orcidPatsalis, Philippos C. [0000-0003-0662-460X]
dc.contributor.orcidNeocleous, Vassos [0000-0002-6890-8395]
dc.contributor.orcidTanteles, George A. [0000-0002-8117-9852]
dc.contributor.orcidSismani, Carolina [0000-0002-9296-8347]
dc.gnosis.orcid0000-0002-8339-9285
dc.gnosis.orcid0000-0003-0662-460X
dc.gnosis.orcid0000-0002-6890-8395
dc.gnosis.orcid0000-0002-8117-9852
dc.gnosis.orcid0000-0002-9296-8347


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