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Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions.
Clin Park Relat Disord
January 2025
Cerebrovascular Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy.
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric symptoms. This report presents a novel NOTCH3 c.1564 T > A (p.
View Article and Find Full Text PDFClinical presentation of pheochromocytoma and screening recommendations.
Rev Clin Esp (Barc)
January 2025
Servicio de Endocrinología y Nutrición, Hospital Universitario Ramón y Cajal, Madrid, Spain; Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain. Electronic address:
Pheochromocytomas are neuroendocrine tumors that derive from sympathetic adrenomedullary chromaffin tissue and produce catecholamines. Due to the excess release of catecholamines, they can produce arterial hypertension, tachycardia, sweating, headache and a large number of other clinical manifestations secondary to the stimulation of α and β adrenoreceptors. Screening for pheochromocytoma is recommended in patients with paroxysmal, resistant or early-onset arterial hypertension, in cases with symptoms suggestive of catecholamine hypersecretion, patients with hereditary syndromes associated with pheochromocytomas, diabetes mellitus of atypical presentation and in adrenal incidentalomas with radiological characteristics not typical of adenoma (with > 10 Hounsfield Units on non-contrast CT).
View Article and Find Full Text PDFAtypical Leber Hereditary Optic Neuropathy (LHON) Associated with a Novel MT-CYB:m.15309T>C(Ile188Thr) Variant.
Genes (Basel)
January 2025
Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant :m.15309T>C (Ile188Thr). We provide detailed analysis of the clinical examinations of a male patient with bilateral optic neuropathy from the acute stage to 8 years of follow-up.
View Article and Find Full Text PDFPhenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.
Am J Kidney Dis
January 2025
Hereditary Kidney Diseases Laboratory, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France. Electronic address:
Rationale & Objective: Molecular diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in the MUC1 gene has long been challenging since variants lie in a large Variable Number of Tandem Repeat (VNTR) region, making identification impossible using standard short read techniques. Previously, we addressed this diagnostic limitation by developing a computational pipeline, named VNtyper, for easier reliable detection of MUC1 VNTR pathogenic variants from short read sequences. This led to unexpected diagnoses of ADTKD-MUC1 among patients with kidney disease referred for genetic testing, which we report here.
View Article and Find Full Text PDFA compound heterozygous mutation causes congenital thrombotic thrombocytopenic purpura: a case report.
Front Med (Lausanne)
January 2025
Department of Hematology, The Second Affiliated Hospital of Nanchang University, Nanchang, China.
Congenital thrombotic thrombocytopenic purpura (cTTP) is a thrombotic microangiopathy (TMA) characterized by severe hereditary ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motifs 13) deficiency caused by mutations. This rare autosomal recessive genetic disorder is often misdiagnosed as immune thrombocytopenia (ITP) or hemolytic uremic syndrome (HUS). Here, we report a 21-year-old male cTTP patient with a compound heterozygous mutation.
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