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512 articles
August 202620
Expanding the clinical and molecular spectrum of SETD5, NEDD4L, and TBL1X related disorders: A case report and literature review.
A male child presented with a complex phenotype including intellectual disability, seizures, periventricular nodular heterotopia (PVNH), congenital central hypothyroidism, and multiorgan malformations.
Identification of a novel likely pathogenic MT-TS2 variant in a patient with mitochondrial myopathy, retinitis pigmentosa and sensorineural hearing loss.
A 55-year-old male with Kallmann syndrome, retinitis pigmentosa, and congenital sensorineural hearing loss presented with generalized weakness and imbalance.
Effect of the unreported COL5A2 variant c.2499 + 4_2499 + 5insTAA on RNA splicing: Insights from minigene assays.
Classical Ehlers-Danlos syndrome (cEDS), caused by pathogenic variants in COL5A2, is characterized by skin hyperextensibility, joint hypermobility and atrophic scarring.
A 4-year-old male presenting with frequent falls, clumsily rising from seated positions, but a normal creatine kinase.
A 4-year-9-month-old boy had progressive gait instability, frequent falls, mild coordination impairment, and difficulty rising.
Dental phenotypes associated with novel PHEX variants in X-linked hypophosphatemia.
Two unrelated patients with X-linked hypophosphatemia (XLH) were evaluated for dental phenotypes associated with novel PHEX variants.
Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.
Two unrelated Japanese individuals presented with global developmental delay, hypotonia, midface hypoplasia, thin upper lip, elongated facial shape, and reduced cerebral white matter volume.
Peroxisomal disorder associated with ACOX1 gain-of-function mimicking neuroinflammatory disease.
A 6-year-old girl presented with motor delay, ichthyosiform eczema, gait disturbance, pain, weakness, areflexia, hypomimia, and hearing loss.
TGFBI p.H626R Mutation in a Chinese Family with Lattice Corneal Dystrophy: A Short Report and Literature Review.
A three-generation Chinese family with lattice corneal dystrophy underwent ophthalmic assessment and genetic testing. Sequencing identified a heterozygous TGFBI c.1877A>G (p.His626Arg) mutation in affected family…
Comparative Effectiveness of Pharmacogenomics for Treatment of Depression.
This randomized controlled trial evaluated the effectiveness of pharmacogenomics-guided treatment (PGx+GIT) versus guideline-informed treatment (GIT) alone in 201 individuals with major depressive disorder.
A Rare BCR::SPECC1L::ABL1 Fusion in a Pediatric Chronic Myeloid Leukemia Patient.
An 8-year-old girl diagnosed with chronic myeloid leukemia (CML) presented with a typical Philadelphia chromosome and BCR::ABL1 fusion identified through karyotyping and FISH.
Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.
Three male patients with pathogenic variants in the PORCN gene were identified through exome sequencing. One patient exhibited features of focal dermal hypoplasia (FDH) due to a mosaic de novo variant, while two…
Barth Syndrome and Referral to Heart Transplantation: Single-Center Experience and Literature Review.
This report discusses three pediatric patients with genetically confirmed Barth syndrome who were referred for heart transplantation evaluation.
Safety and immunogenicity of one or two doses of the rVSVΔG-ZEBOV-GP Ebola virus vaccine in adults and adolescents living with HIV: a phase 2, multicentre, double-blind, randomised, placebo-controlled trial.
This phase 2, multicentre, double-blind, randomised, placebo-controlled trial evaluated the safety and immunogenicity of the rVSVΔG-ZEBOV-GP Ebola vaccine in 251 adults and adolescents living with HIV.
Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 -Related Noonan Syndrome.
Two unrelated female pediatric patients were evaluated for LZTR1-related Noonan syndrome. The first patient exhibited isolated short stature and subtle dysmorphic features, with a confirmed heterozygous pathogenic…
Developmental Dysplasia of the Hip in Saudi Arabia and the Gulf Countries: A Genetic Systematic Review Study .
This systematic review examined genetic determinants of developmental dysplasia of the hip (DDH) in Saudi Arabia and Gulf countries.
A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.
Neuromuscular oculoauditory syndrome (NMOAS; OMIM# 618733) is a rare neurodevelopmental disorder caused by heterozygous variants in DHX16, a gene in the DExD/H-box RNA helicase family.
A novel PKHD1 missense variant disrupting splicing in a fetus with Caroli disease.
Caroli disease (CD) is a rare inherited disorder characterized by dilatation of intrahepatic bile ducts, and prenatal diagnosis of this disease is extremely rare.
Primary Cutaneous Anaplastic Large Cell Lymphoma in a Patient With Li Fraumeni Syndrome.
A 64-year-old man with Li-Fraumeni syndrome and a germline TP53 p.R196* mutation presented with a solitary ulcerated nodule on the left anterior thigh.
Clinical and genetic analysis of Liver-Predominant ornithine transcarbamylase deficiency caused by a novel de novo OTC sequence variant in a female child.
Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. Although the classical presentation is dominated by hyperammonemia-related neurological manifestations, some patients may present with…
Molecular autopsy in unexplained sudden death: a systematic review and meta-analysis of ACMG-corrected diagnostic yield, genomic architecture, and family translation.
This PRISMA-based systematic review and random-effects meta-analysis assessed postmortem genetic testing in unexplained sudden death.
July 20264
Pyle disease - Functional validation of disease-causing missense variants in SFRP4/sFRP4.
An adult woman presented with clinical and radiographic features of Pyle disease, including Erlenmeyer-flask deformity, cortical thinning, and multiple fractures.
Complete Pachydermoperiostosis With Acromegaloid Phenotype: Characteristic 99m Tc-Methylene Diphosphonate (MDP) Skeletal Scintigraphy in a Rare Clinical Mimic of Acromegaly.
Pachydermoperiostosis (Touraine-Solente-Gole syndrome) is a rare disorder that can mimic acromegaly and should be considered a differential in patients with acromegaloid features.
Recurrent KCNN4 p.Ser314Pro variant in a child with Gardos channelopathy: a 6-year follow-up.
A child with Gardos channelopathy due to a recurrent KCNN4 p.Ser314Pro variant was followed for 6 years. The patient maintained a stable baseline but experienced hemolytic crises triggered by infections and exacerbated…
Autosomal recessive desminopathy: an under-recognised disorder.
Myofibrillar myopathies (MFMs) are genetically and clinically heterogeneous muscle disorders characterised by sarcoplasmic protein aggregation and myofibrillar disorganisation arising at the Z-disc.
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