Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic
نویسندگان
چکیده
A de novo GFAP variant, p.R376W, was identified in a child presenting with hypotonia, developmental delay, and abnormal brain MRI. Following the 2015 ACMG variant classification guidelines and the functional studies showing protein aggregate formation in vitro, p.R376W should be classified as a pathogenic variant, causative for Alexander disease.
منابع مشابه
Psychiatric onset Alexander disease: an important challenge in neuropsychiatric diagnosis
Introduction: Alexander disease is a heterogenous group of diseases with various manifestations based on age of disease onset. This rare leukodystrophy syndrome with mutations in GFAP Gene could present with developmental delay and seizure in infantile form to ataxia and bulbar palsy in adulthood. However psychiatric symptoms are not well-defined and usually evaluate after disease diagnosis not...
متن کاملSuccessful Treatment of Monoclonal Gammopathy of Renal Significance With Bortezomib in the Setting of Post- Viral SARs-CoV-2 Infection: Case Report
Introduction: Monoclonal Gammopathy of Renal Significance (MGRS) is an immunoglobulin proliferative disorder that leads to the destruction of the renal glomerular basement membrane and progression to end-stage renal disease. The pathogenesis of MGRS is similar to that of multiple myeloma and chronic lymphocytic lymphoma but lacks criteria for either disease. This inability to characterize the d...
متن کاملAggressive chondroblastic osteosarcoma in a dog: A case report
Canine osteosarcoma (OS) or osteogenic sarcoma is an aggressive tumor of the skeletal system, associated with a rapid progression and guarded prognosis. The osteosarcomas, mostly arise from the appendicular skeleton while axial OS (osteosarcoma of flat bones) are less reported in the majority of large breeds. This report describes complete para-clinical investigations of an aggressive chondrobl...
متن کاملRare Variant of Lycanthropy and Ecstasy: Case Report
Lycanthropy is an unusual belief or delusion in which the patient thinks that he/she has been transformed into an animal. In rare cases, the patient believes that another person has been transformed into an animal. In this case report, a patient who had an uncommon variant of lycanthropy is introduced. The patient’s symptoms had appeared after consumption of ecstasy. This shows the occurrence o...
متن کاملAn Unusual Case of Subglossal Hirudiniasis in an Iranian Cross-breed Goat-kid
Case Description- Hirudiniasis in the subglossal area is very rare. We describe an Iranian cross-breed goat-kid with two leeches’ infestation in his sublingual area. Clinical Findings -The animal was referred to the veterinary clinic with a history of anorexia, teeth grinding and bleeding from the mouth. In clinical examination of the mouth, two leeches observed which attached to sublingual re...
متن کامل