The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis
Author:
Avci Durmusalioglu Enise1ORCID, Isik Esra1, Ayyildiz Emecen Durdugul1, Goksen Damla2, Ozen Samim2, Onay Huseyin3, Kose Melis1, Atik Tahir1, Darcan Sukran2, Cogulu Ozgur1, Ozkinay Ferda1
Affiliation:
1. Pediatric Genetics Subdivision, Department of Pediatrics, Faculty of Medicine , Ege University , Izmir , Turkey 2. Department of Pediatric Endocrinology and Diabetes, Faculty of Medicine , Ege University , Izmir , Turkey 3. Department of Medical Genetics, Faculty of Medicine , Ege University , Izmir , Turkey
Abstract
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.
Publisher
Walter de Gruyter GmbH
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Reference12 articles.
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