Durmusalioglu, Enise AvciIsik, EsraEmecen, Durdugul AyyildizGoksen, DamlaOzen, SamimOnay, HuseyinKose, Melis2023-01-122023-01-1220210334-018X2191-0251https://doi.org/10.1515/jpem-2021-0018https://hdl.handle.net/11454/77980Objectives: 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.en10.1515/jpem-2021-0018info:eu-repo/semantics/closedAccesslysinuric protein intolerancenext generation sequencingosteoporosisreverse phenotypingSLC7A7Article347957960WOS:00067258710001833823103Q4