Journal of pediatric endocrinology & metabolism : JPEM · 2021
The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis.
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Avci Durmusalioglu Enise, Isik Esra, Ayyildiz Emecen Durdugul, Goksen Damla, Ozen Samim, Onay Huseyin, Kose Melis, Atik Tahir, Darcan Sukran, Cogulu Ozgur, Ozkinay Ferda
Аннотация
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.
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.