The utility of reverse phenotyping: A case of lysinuric protein intolerance presented with childhood osteoporosis

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dc.contributor.authorDurmusalioglu E.A.
dc.contributor.authorIsik E.
dc.contributor.authorEmecen D.A.
dc.contributor.authorGoksen D.
dc.contributor.authorOzen S.
dc.contributor.authorOnay H.
dc.contributor.authorOzkinay F.
dc.date.accessioned2021-05-03T20:58:59Z
dc.date.available2021-05-03T20:58:59Z
dc.date.issued2021
dc.description.abstractObjectives: Childhood osteoporosis is often a consequence of a chronic disease or its treatment. Lysinuric protein intolerance (LPI), a rare secondary cause of the osteoporosis, is an autosomal recessive disorder with clinical features ranging from minimal protein intolerance to severe multisystemic involvement. We report a case diagnosed to have LPI using a Next Generation Sequencing (NGS) panel and evaluate the utility of reverse phenotyping. Case presentation: A fifteen-year-old-boy with an initial diagnosis of osteogenesis imperfecta, was referred due to a number of atypical findings accompanying to osteoporosis such as splenomegaly and bicytopenia. A NGS panel (TruSight One Sequencing Panel) was performed and a novel homozygous mutation of c.257G>A (p.Gly86Glu) in the SLC7A7 gene (NM_001126106.2), responsible for LPI, was detected. The diagnosis was confirmed via reverse phenotyping. Conclusions: Reverse phenotyping using a multigene panel shortens the diagnostic process. © 2021 De Gruyter. All rights reserved.en_US
dc.identifier.doi10.1515/jpem-2021-0018en_US
dc.identifier.issn0334-018X
dc.identifier.pmid33823103en_US
dc.identifier.scopus2-s2.0-85104372030en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1515/jpem-2021-0018
dc.identifier.urihttps://hdl.handle.net/11454/71513
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherDe Gruyter Open Ltden_US
dc.relation.ispartofJournal of Pediatric Endocrinology and Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectLysinuric protein intoleranceen_US
dc.subjectNext generation sequencingen_US
dc.subjectOsteoporosisen_US
dc.subjectReverse phenotypingen_US
dc.subjectSLC7A7en_US
dc.titleThe utility of reverse phenotyping: A case of lysinuric protein intolerance presented with childhood osteoporosisen_US
dc.typeArticleen_US

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