The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis

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.

Interdisciplinary Oral Rehabilitation of a Teenage Patient with Down Syndrome: A Case Report

“…Down Syndrome (DS) is characterized by an extra chromosome 21, the most common chromosomal abnormality in humans. 1 The syndrome's etiology is considered multifactorial, although the formation mechanism has not been fully explained. Maternal age, drug and alcohol use, radiation, and thyroid antibodies are accepted as the etiological factors.…”