The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis
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Enise Avci Durmusalioglu
,
Esra Isik
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.
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Research funding: None declared.
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Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
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Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Ethical approval: A written informed consent was obtained from the parents for publication of the case.
References
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© 2021 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Review Article
- Delivery factors and neonatal thyroid hormone levels: a systematic review
- Original Articles
- Birth prevalence of tetrahydrobiopterin deficiency in China: data from the national newborn screening program, 2013–2019
- Analysis of the CAG tract length in the Androgen Receptor gene in Mexican patients with nonsyndromic cryptorchidism
- Pituitary hypoplasia is the best MRI predictor of the severity and type of growth hormone deficiency in children with congenital growth hormone deficiency
- Urinary gonadotropin measurements by enhanced luminometric assays (LIA) for the evaluation of pubertal development
- Challenges in management of transient hyperinsulinism – a retrospective analysis of 36 severely affected children
- Who should return for an oral glucose tolerance test? A proposed clinical pathway based on retrospective analysis of 332 children
- Investigation of the prevalence of cardiovascular risk factors in obese patients diagnosed with metabolic syndrome in childhood and examination of left ventricular function by echocardiography
- Effect of l-carnitine supplementation on children and adolescents with nonalcoholic fatty liver disease (NAFLD): a randomized, triple-blind, placebo-controlled clinical trial
- Management of patients with X-linked hypophosphatemic rickets during Covid-19 pandemic lockdown
- Evaluation of the pathophysiological role of Fetuin A levels in adolescents with polycystic ovary syndrome
- Gonadotropins for testicular descent in cryptorchid congenital hypogonadotropic hypogonadism males beyond infancy
- Clinical characteristics and outcome of hospitalized children and adolescent patients with type 1 diabetes during the COVID-19 pandemic: data from a single center surveillance study in Egypt
- Letter to the Editor
- Revisiting the effect of GnRH analogue treatment on bone mineral density in young adolescents with gender dysphoria
- Case Reports
- Pulmonary and cutaneous mucormycosis in two children with diabetes mellitus type 1
- Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis
- Barth syndrome with severe dilated cardiomyopathy and growth hormone resistance: a case report
- The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis
