The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis
Makaleler > Tam Makale · 2021
Yazarlar: Enise AVCI DURMUŞALİOĞLU, Esra IŞIK, Durdugul Ayyildiz Emecen, Ruhsar Damla GÖKŞEN, Samim ÖZEN, Huseyin Onay, Melis Kose, Tahir ATİK, Şükran DARCAN, Muhsin Özgür ÇOĞULU, Feriştah Ferda ÖZKINAY
Journal of Pediatric Endocrinology and Metabolism, Uluslararası, Wos, 2021, cilt 34, ss 957-960
Özet
Abstract Objectives 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.