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An 11-year-old girl on evaluation for syncope was found to have progressive sinus node dysfunction and His-Purkinje system disease with atrial standstill. Genetic analysis revealed compound heterozygous mutations of the SCN5A gene in a novel combination.
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http://dx.doi.org/10.1016/j.jpeds.2014.07.036 | DOI Listing |
EMBO Mol Med
September 2025
Institute for Regenerative Medicine, Medical Innovation Center and State Key Laboratory of Cardiovascular Diseases, Shanghai East Hospital, National Stem Cell Translational Resource Center & Ministry of Education Stem Cell Resource Center, Frontier Science Center for Stem Cell Research, School of Li
Primary microcephaly, a rare congenital condition characterized by reduced brain size, occurs due to impaired neurogenesis during brain development. Through whole-exome sequencing, we identified compound heterozygous loss-of-function mutations in CENTRIN 3 (CETN3) in a 5-year-old patient with primary microcephaly. As CETN3 has not been previously linked to microcephaly, we investigated its potential function in neurodevelopment in human pluripotent stem cell-derived cerebral organoids.
View Article and Find Full Text PDFHematol Transfus Cell Ther
September 2025
Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada; Verspeeten Family Cancer Centre, London Health Sciences Centre, London, ON, Canada; Department of Oncology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada; Th
Background: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening immune disorder characterized by excessive inflammation and multiorgan involvement. Rarely, HLH can manifest with signs and symptoms isolated to the central nervous system (CNS). This case report highlights the unique clinical course of CNS-isolated HLH in a 19-year-old female who, despite a nine-year delay in diagnosis, achieved disease remission following a hematopoietic stem cell transplant (HSCT).
View Article and Find Full Text PDFBackground: Thiopurine S-methyltransferase (TPMT) is crucial for metabolising thiopurine drugs. This study aimed to establish the cutoff values for TPMT activity in a cohort of healthy individuals. We defined normal TPMT activity ranges and identified clinically applicable thresholds to distinguish individuals with normal TPMT function from those with reduced or deficient activity.
View Article and Find Full Text PDFMol Genet Metab Rep
December 2025
Pediatric Critical Care Medicine, Department of Pediatrics NewYork-Presbyterian Morgan Stanley Children's Hospital, Columbia University Medical Center, New York, NY, United States of America.
encodes NADH: ubiquinone oxidoreductase core subunit V1, a key component of mitochondrial Complex 1. Biallelic pathogenic variants in this gene produce a broad and variable phenotypic spectrum in affected individuals, including ophthalmoplegia, developmental delays, brain imaging abnormalities, and recurrent episodes of emesis and lactic acidemia. We report female siblings compound heterozygous for two missense variants (Arg40Gln, Val245Met) in with unusual presentations of this condition.
View Article and Find Full Text PDFFront Pediatr
August 2025
Department of Minimally Invasive Urological Surgery, Children's Hospital Affiliated to Shandong University, Jinan, China.
Background: Junctional epidermolysis bullosa (JEB) is a rare inherited blistering disorder, and its urological spectrum remains poorly defined.
Case Presentation: A 19-month-old boy carrying compound heterozygous mutations (p.R252C, p.