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 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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1515/jpem-2021-0018 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Genet Med
December 2024
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK; Division of Clinical Medicine, University of Sheffield, Sheffield, UK. Electronic address:
Purpose: The TAOK proteins are a group of serine/threonine-protein kinases involved in signalling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia and feeding difficulties. TAOK2 variants have been reported to be associated with autism and early-onset obesity.
View Article and Find Full Text PDFN7-methyladenosine-induced SLC7A7 serves as a prognostic biomarker in pan-cancer and promotes CRC progression in colorectal cancer.
Sci Rep
December 2024
Department of Colorectal Surgery, The First Affiliated Hospital of Zhengzhou University, No.1 Eastern Jianshe Road, Zhengzhou, 450052, Henan, China.
Solute transport family 7A member 7 (SLC7A7) mutations contribute to lysinuric protein intolerance (LPI), which is the mechanism of action that has been extensively studied. In colorectal cancer (CRC), SLC7A7 appears to play a role, but the features and mechanisms are not yet well understood. Survival was analyzed using the Kaplan-Meier analysis.
View Article and Find Full Text PDFThe epigenetic mechanisms of adaption to the hot and humid climate in Hu sheep (Ovis aries).
Physiol Rep
December 2024
Chongqing Academy of Animal Sciences, Chongqing, China.
Hu sheep is characterized by its excellent fecundity and high adaptability to various ecological environments. To reveal the molecular basis involved in Hu sheep, we first examined the 10 index of neuroendocrine and metabolism in blood in Hu sheep during non-stress period (April-May) and stress period (July-August) using ELISA, including CRH, adrenocorticotropic hormone (ACTH), cortisol, aldosterone, adrenaline, T3,T4, SOD, GSH-PX, and T-AOC. Then we conducted the Whole genome DNA methylation sequencing in blood and performed the comparative analysis of global DNA methylation between the non-stress period and the stress period.
View Article and Find Full Text PDFGut microbiota-derived 4-hydroxyphenylacetic acid from resveratrol supplementation prevents obesity through SIRT1 signaling activation.
Gut Microbes
December 2025
Institute of Agri-Food Processing and Nutrition, Beijing Academy of Agriculture and Forestry Sciences, Beijing, China.
Resveratrol (RSV), a natural polyphenol, has been suggested to influence glucose and lipid metabolism. However, the underlying molecular mechanism of its action remains largely unknown due to its multiple biological targets and low bioavailability. In this study, we demonstrate that RSV supplementation ameliorates high-fat-diet (HFD)-induced gut microbiota dysbiosis, enhancing the abundance of anti-obesity bacterial strains such as and .
View Article and Find Full Text PDFExploring the effect and mechanism of action of Jinlida granules (JLD) in the treatment of diabetes-associated cognitive impairment based on network pharmacology with experimental validation.
Ann Med
December 2025
Department of Hebei Provincial Key Laboratory of Basic Medicine for Diabetes, The Shijiazhuang Second Hospital, Shijiazhuang, China.
Objectives: To explore the effect and the probable mechanisms of JLD in the treatment of type 2 diabetes mellitus (T2DM) - associated cognitive impairment (TDACI).
Methods: The effect of JLD in combating TDACI was assessed in T2DM model mice by conducting Morris water maze (MWM) behaviour testing. Active components and their putative targets, as well as TDACI-related targets, were collected from public databases.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!