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512 articles
July 202624
Genetic evidence for a causal relationship between melatonin metabolism and depression.
This systematic review utilized two-sample Mendelian randomization to explore the causal relationship between melatonin metabolism and specific depression symptom subtypes in major depressive disorder (MDD).
Clinical Reasoning: A Toddler With Heat Stroke.
A 17-month-old boy presented with febrile seizures and encephalopathy after being exposed to hot weather in a poorly ventilated car.
Genetic susceptibility to thrombotic microangiopathy in a 10-month-old patient with SMA type 1: a caveat for gene therapy eligibility.
A 10-month-old girl with spinal muscular atrophy type 1 was initially deemed eligible for gene therapy with onasemnogene abeparvovec.
Contrasting outcomes of 16p11.2 microdeletion and microduplication in prenatal diagnosis: phenotypic variability and genetic counseling strategies.
This report discusses two prenatal cases involving 16p11.2 copy number variations. Case 1 presented with a de novo microdeletion and an ultrasound finding of an absent nasal bone, leading to pregnancy termination after…
Electroclinical features of epilepsy in AUTS2-related syndrome: case description and narrative review.
A patient with AUTS2-related syndrome presented with epilepsy characterized by developmental/epileptic encephalopathy and spike-wave activation during sleep.
Sustained Therapeutic Efficacy of Intravenous Plasminogen Concentrate in Pediatric Patients With Type 1 Plasminogen Deficiency: An Analysis of Dosing Parameters and Clinical Outcomes.
This Phase II/III clinical trial analyzed the efficacy of intravenous plasminogen concentrate in 17 pediatric patients with Type 1 plasminogen deficiency (PLGD-1).
Brain Abscess as the Initial Manifestation of Hereditary Hemorrhagic Telangiectasia in a Child.
Brain abscess secondary to pulmonary arteriovenous malformation is rare in children and may be the first manifestation of hereditary hemorrhagic telangiectasia (HHT).
PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discovery.
Hereditary hearing loss is highly genetically heterogeneous, with emerging overlap between genes implicated in early-onset and age-related hearing loss.
Seventeen-year follow-up of hypophosphatasia diagnosed in middle-aged siblings harboring a novel intronic and a rare missense ALPL gene mutation.
A 17-year follow-up of middle-aged siblings diagnosed with hypophosphatasia revealed painful proximal femoral stress fractures, generalized muscle and bone pain, and tooth loss.
Clinical and population genetic insights into primary complement component 2 (C2) deficiency: A founder variant in Ashkenazi Jews.
A 14-year-old Ashkenazi Jewish boy presented with bullous cutaneous lupus erythematosus and lupus nephritis. His diagnosis of complement component 2 deficiency (C2D) was influenced by a family history of fatal…
Tofersen treatment in respiratory onset amyotrophic lateral sclerosis and a variant of uncertain significance in SOD1; a case report.
A patient with respiratory onset amyotrophic lateral sclerosis (ALS) and a novel SOD1 variant of uncertain significance (VUS) was treated with tofersen.
A systematic review of genetic associations, autoantibody profiles, and research gaps of peptidyl arginine deiminases type 2 (PAD2) and PAD4 in rheumatoid arthritis.
This systematic review with narrative synthesis examined genetic associations involving PADI2 and PADI4 and anti-PAD2/anti-PAD4 autoantibodies in rheumatoid arthritis (RA).
DNA Methylation Profiling of Pediatric Ectomesenchymoma Supports Embryonal Rhabdomyosarcoma-Like Epigenetic Identity.
This report details two cases of ectomesenchymoma, a rare pediatric tumor with both rhabdomyoblastic and neuroectodermal features. Genetic analysis revealed RAS-pathway mutations in both tumors.
The Expanding Phenotypic Spectrum of COL4A1- and COL4A2-Related Disorders: A Systematic Review.
This systematic review analyzed 99 articles to characterize the phenotypic spectrum of COL4A1- and COL4A2-related disorders in 367 patients.
Functional impact of the TRPA1 H560D variant on neuropathic pain.
Small fiber neuropathy (SFN) is characterized by acral burning pain and may be associated with genetic variants of the transient receptor potential ankyrin 1 (TRPA1) channel.
Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation.
A 2-year-old girl presented with generalized hypotonia and delayed language development, leading to the identification of a de novo missense variant in the KCNK3 gene through trio-whole exome sequencing.
Endocrine Phenotypes and Hormonal Treatment in Meier-Gorlin Syndrome: Report of Two Cases and a Systematic Review of Literature.
This report details two cases of Meier-Gorlin syndrome (MGORS), a rare condition linked to DNA replication gene variants. A 14-year-old girl presented with a CDC6 variant and mammary hypoplasia, while an 11-year-old boy…
Diagnosing Mendelian Kidney Disease: Hidden Niches in the (Kidney) Genome.
A family with a history of autosomal dominant kidney disease presented with renal failure in middle adulthood. Genetic analysis revealed the index patient had both autosomal dominant polycystic kidney disease (ADPKD)…
Novel Germline ELP1 Splice-Acceptor Variant in NF1-Negative Optic Pathway Glioma: Expanding the Clinical Spectrum Associated With ELP1 Variation.
A 7-year-old boy presented with an optic pathway glioma without neurofibromatosis type 1 (NF1). Whole-exome sequencing revealed a novel germline ELP1 splice-acceptor variant, classified as likely pathogenic.
Pheochromocytoma as a manifestation of Neurofibromatosis type 1: Clinical presentation, diagnosis, and genetic analysis.
A 50-year-old woman with a clinical diagnosis of neurofibromatosis type 1 (NF1), based on family history and multiple diagnostic criteria, presented with episodic abdominal pain and symptoms suggestive of…
Demonstrating clinical and radiological variability of adult-onset Alexander disease in three siblings.
Three siblings in their fifth and sixth decades presented with adult-onset Alexander disease, characterized by insidious onset of motor, cerebellar, and autonomic dysfunction.
Functional characterization of a novel ZIP8 variant causing impaired manganese homeostasis and congenital disorders of glycosylation.
A patient with a congenital disorder of glycosylation (CDG) was found to have a novel mutation (p.F206I) in the ZIP8 gene, resulting in significantly low serum manganese levels and abnormal glycosylation patterns.
Molecular autopsy identifies the Na V 1.5 p.Leu96Pro variant causing sodium current loss-of-function in unexplained sudden cardiac death.
Molecular autopsy can identify candidate variants in unexplained sudden cardiac death (SUD), but functional evidence is often required to support pathogenic interpretation and family risk assessment.
The Innocent Delta Wave in Progressive Cardiomyopathy - Culprit vs Bystander.
A 34-year-old man with a history of palpitations and dyspnea presented with atrial fibrillation and was found to have hypertrophic cardiomyopathy (HCM) and moderate left ventricular systolic dysfunction.
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