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

Basit Öğe Kaydı
dc.authorwosidCOGULU, OZGUR/W-2994-2017
dc.authorwosidAtik, Tahir/AAY-5682-2021
dc.contributor.authorDurmusalioglu, Enise Avci
dc.contributor.authorIsik, Esra
dc.contributor.authorEmecen, Durdugul Ayyildiz
dc.contributor.authorGoksen, Damla
dc.contributor.authorOzen, Samim
dc.contributor.authorOnay, Huseyin
dc.contributor.authorKose, Melis
dc.date.accessioned2023-01-12T20:10:55Z
dc.date.available2023-01-12T20:10:55Z
dc.date.issued2021
dc.departmentN/A/Departmenten_US
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.en_US
dc.identifier.doi10.1515/jpem-2021-0018
dc.identifier.endpage960en_US
dc.identifier.issn0334-018X
dc.identifier.issn2191-0251
dc.identifier.issue7en_US
dc.identifier.pmid33823103en_US
dc.identifier.startpage957en_US
dc.identifier.urihttps://doi.org/10.1515/jpem-2021-0018
dc.identifier.urihttps://hdl.handle.net/11454/77980
dc.identifier.volume34en_US
dc.identifier.wosWOS:000672587100018en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWalter De Gruyter Gmbhen_US
dc.relation.ispartofJournal of Pediatric Endocrinology & 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

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu