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Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient.
Hum Genome Var
January 2025
Sabin Diagnóstico e Saúde, Brasília, DF, Brazil.
Here, we report the case of a 29-year-old male with classic Pelizaeus-Merzbacher disease (PMD) harboring the PLP1 variant NM_000533.5:c.62 C > T, leading to an NP_000524.
View Article and Find Full Text PDFNeurodevelopmental Disorder Caused by Deletion of , a lncRNA Gene.
N Engl J Med
October 2024
From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.
encodes a human long noncoding RNA (lncRNA) adjacent to , a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here, we report our findings in three unrelated children with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with haploinsufficiency.
View Article and Find Full Text PDFTremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.
Mol Genet Genomic Med
October 2024
INSERM UMR1141, Hôpital Robert Debré, Université Paris Cité, Paris, France.
Background: POLIII-related leukodystrophies are a group of recently recognized hereditary white matter diseases with a similar clinical and radiological phenotype. No Tunisian studies have been published about POLIII-related leukodystrophy due to POLR3A variants. The aim of this study was to contribute to the clinical, radiological, and genetic characterization of POLR3A-related leukodystrophy in a Tunisian cohort.
View Article and Find Full Text PDFAn Algorithmic Approach to MR Imaging of Hypomyelinating Leukodystrophies.
J Magn Reson Imaging
August 2024
Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Hypomyelinating leukodystrophies (HLDs) are a heterogeneous group of white matter diseases characterized by permanent deficiency of myelin deposition in brain. MRI is instrumental in the diagnosis and recommending genetic analysis, and is especially useful as many patients have a considerable clinical overlap, with the primary presenting complains being global developmental delay with psychomotor regression. Hypomyelination is defined as deficient myelination on two successive MR scans, taken at least 6 months apart, one of which should have been obtained after 1 year of age.
View Article and Find Full Text PDFIntroduction: Inherited 5-oxoprolinase (OPLAH) deficiency is a rare inborn condition characterized by 5-oxoprolinuria. The inherited condition of 5-oxoprolinuria, or pyroglutamic aciduria, is primarily caused by mutations in the genes that encode glutathione synthetase (GSS) and 5-oxoprolinase (OPLAH), which are enzymes involved in the gamma-glutamyl cycle in glutathione metabolism. We report a 3-year-old male patient with epilepsy and speech difficulty diagnosed as primary 5-oxoprolinuria due to a novel gene mutation.
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