The utility of reverse phenotyping: A case of lysinuric protein intolerance presented with childhood osteoporosis
Küçük Resim Yok
Tarih
2021
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
De Gruyter Open Ltd
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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. © 2021 De Gruyter. All rights reserved.
Açıklama
Anahtar Kelimeler
Lysinuric protein intolerance, Next generation sequencing, Osteoporosis, Reverse phenotyping, SLC7A7
Kaynak
Journal of Pediatric Endocrinology and Metabolism
WoS Q Değeri
Scopus Q Değeri
Q2
