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671 articles
July 202624
Novel mutations in ZMYND15 expand the phenotypic spectrum to acephalic spermatozoa: abnormal sperm head-tail connection mediated by SUN5.
Two infertile patients had extremely low sperm counts, poor motility, and numerous spermatozoa without heads. Whole-exome sequencing identified homozygous truncating ZMYND15 variants in both.
CHARGE Syndrome: What an Otolaryngologist Should Know-A Systematic Review and Meta-Analysis.
This PRISMA-guided systematic review and proportional meta-analysis pooled otolaryngologic manifestations of CHARGE syndrome from 70 studies involving 1,564 patients, predominantly reported in case series.
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.
Giant Centrifugal Miliaria Profunda.
The report describes two infants with giant centrifugal miliaria profunda (GCMP), a form of miliaria profunda characterized by centrifugal enlargement of large annular plaques.
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)…
Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report.
A 16-year-old male with mitochondrial complex I deficiency due to a homozygous likely pathogenic NDUFV1 variant developed dengue hemorrhagic fever.
Arthrogryposis With CNS Involvement in AFF3-Related KINSSHIP Syndrome: A Detailed Phenotypic Characterization From a Mexican Patient and Review of the Literature.
A patient with distal contractures present at birth and neurodevelopmental delay underwent whole-genome sequencing, which identified a previously reported missense variant in AFF3.
A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling.
A man and his father, affected across successive generations, had refractory hypertension without Cushingoid features. Steroid profiling showed mild hypercortisolemia with elevated ACTH, markedly increased…
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.
Phenotypic Expansion of GYG1-Related Disease Presenting as Hypertrophic Cardiomyopathy With Brugada Phenocopy.
A 31-year-old man presented with chest pain, fatigue, and exertional dyspnea. ECG showed a spontaneous type 1 Brugada pattern with complete right bundle branch block.
A Lean Metabolic Catastrophe - A Case Report on Congenital Generalized Lipodystrophy Presenting as Severe Insulin Resistance and Hypertriglyceridemia.
A 20-year-old woman presented with acute abdominal pain and vomiting, with diabetes and severe hypertriglyceridemia dating from age 16. Examination showed markedly reduced subcutaneous fat throughout the body.
Carbetocin Nasal Spray for the Treatment of Hyperphagia in Prader-Willi Syndrome: Results From the Randomized, Placebo-Controlled, Phase 3 COMPASS PWS Study.
The multicenter, randomized, placebo-controlled phase 3 COMPASS PWS trial assessed carbetocin nasal spray for hyperphagia in people with Prader-Willi syndrome.
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.
Musculoskeletal Phenotypes of 19 Patients With X-Linked HNRNPH2-Related Neurodevelopmental Disorder: A Prospective Case Series.
This prospective case series describes standardized musculoskeletal and orthopedic assessments in 19 individuals with X-linked HNRNPH2-related neurodevelopmental disorder.
Resolution of the Diagnostic Odyssey in a Familial Form of Hackmann-Di Donato Syndrome With Structural Brain Abnormalities.
A male patient with a familial form of Hackmann-Di Donato syndrome was found to carry an inherited pathogenic NKAP variant, identified by trio exome sequencing.
Inherited Glycosylphosphatidylinositol Deficiency Caused by PIGW Variants With Recurrent Infections and Complement Abnormalities.
A 53-day-old boy presented with poor feeding and fever. He had distinctive facial features, hyperphosphatasia, and reduced complement levels, with recurrent fever and infections during a 2.5-month admission.
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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