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512 articles
September 202624
Germline genomic testing to assess the suitability of stem cell donors in the treatment of haematological malignancy: clinical ethics commentary.
The increasing integration of genomic medicine into routine medical care brings to light issues of complexity and uncertainty in the interpretation of genetic variation.We describe a fictional case study based on our…
Male breast cancer in Arab populations: a systematic review of molecular, genetic, and clinicopathologic characteristics.
This systematic review analyzed 54 studies involving 1,534 male breast cancer (MBC) patients from Arab countries, revealing that invasive ductal carcinoma is the most common subtype (92.6%).
Retinal Features and Preserved Vision in ENPP1 Deficiency: Long-Term Insights from Multimodal Imaging and Electrophysiology.
A male patient with ENPP1 deficiency underwent a comprehensive ophthalmic assessment over ten years. Despite systemic ectopic calcification, his visual acuity showed only slight decline, and multimodal imaging revealed…
A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels.
Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy.
Arthrogryposis as a neuromuscular phenotype: lessons from PIEZO2 loss-of-function.
A 43-year-old woman presented with congenital clubfoot, progressive scoliosis, and distal joint contractures. Neurological examination revealed pure sensory findings, global areflexia, severe sensory ataxia, and a…
Beyond the Kidney: A Systematic Review of Extrarenal Manifestations in MAPKBP1 -Related Nephronophthisis.
This systematic review examined extrarenal manifestations in 19 patients with MAPKBP1-related nephronophthisis (NPHP20). The study found that most patients exhibited at least one extrarenal feature, with scoliosis being…
Tangier Disease.
Two patients with Tangier disease (TD) were evaluated. The first patient was diagnosed through a tonsillectomy specimen showing histopathological features of TD and had a compound heterozygous variant in the ABCA1 gene.
A systematic review of cancer risks associated with MITF variants.
This systematic review and meta-analysis evaluated cancer risks associated with germline MITF variants, focusing on 11 retrospective case-control studies involving 8,606 melanoma patients and 17,953 controls.
Further delineation of 2p13.2-p11.2 deletion syndrome by optical genome mapping.
A patient with a de novo heterozygous deletion of 2p13-p11.2 was identified through array CGH and further characterized using optical genome mapping.
Expanding the adult spectrum of TUBB4A disease: a spasticity-tremor phenotype with network imaging correlates.
TUBB4A mutations cause a spectrum of neurological disorders, but adult-onset hereditary spastic paraplegia is rarely described.
Novel TRAC variant causing autosomal recessive TCR-alpha/beta deficient immunodeficiency 7.
Monozygotic twin brothers presented in early infancy with severe, recurrent diarrhoea and profound T-cell lymphopenia. Immunological assessment revealed significantly reduced immunoglobulins and very low CD3+, CD4+, and…
Child with genetically confirmed Prader-Willi syndrome.
A boy in his early teens presented with short stature, early-onset obesity, and features indicative of Prader-Willi syndrome (PWS).
Somatic Mosaicism Modulating Clinical Severity in COL2A1-Related Skeletal Dysplasia: A Case of Profound Skeletal Asymmetry.
A patient presented with significant skeletal asymmetry attributed to somatic mosaicism for a pathogenic COL2A1 variant (c.G1537A; p.G513S).
Durable disease control following multidisciplinary treatment including pembrolizumab in POLE-mutated dedifferentiated endometrial carcinoma with brain metastases: A case report.
A 58-year-old woman with POLE-mutated dedifferentiated endometrial carcinoma presented with headache, dizziness, and weakness due to multiple brain and pulmonary metastases.
Meta-analysis of PAX1/JAM3 methylation performance in high-risk HPV-positive women.
This meta-analysis evaluated the diagnostic performance of PAX1/JAM3 dual-gene methylation testing in high-risk HPV-positive women for detecting high-grade cervical intraepithelial neoplasia (CIN) and cervical cancer.
Rauch-Steindl syndrome: intrauterine phenotype and diagnostic utility of prenatal exome sequencing.
A fetus at 24 weeks gestation was diagnosed with Rauch-Steindl syndrome, presenting with severe microcephaly, fetal growth restriction, and cystic changes in the temporal poles.
Prevalence of neuropsychiatric and seizure disorders in neurofibromatosis type 1: a systematic review and meta-analysis.
This systematic review and meta-analysis assessed the prevalence of neuropsychiatric and seizure disorders in patients with neurofibromatosis type 1 (NF1).
Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.
Ciliopathies represent a diverse group of inherited disorders resulting from dysfunctional cilia. A rare subset is associated with biallelic variants in WDR19 , with fewer than 100 affected individuals reported…
Digenic HNF1A and ABCC8 variants provide mechanistic insight into early-onset diabetes.
Oligogenic inheritance in maturity-onset diabetes of the young (MODY) remains poorly characterized, and the contribution of multiple candidate variants to disease pathogenesis is incompletely understood.
Late Diagnosis of Noonan Syndrome Presenting With Infective Endocarditis: A Multidisciplinary Challenge in an Underserved Population.
A 29-year-old woman from a rural area presented with severe respiratory distress, weight loss, and new cardiac murmurs. Examination revealed dysmorphic features indicative of Noonan syndrome.
Postoperative ctDNA-Guided Adjuvant Therapy in Resected Colorectal Cancer: A Systematic Review and Meta-analysis of Prognostic Validity Versus Treatment-Decision Utility.
This systematic review and meta-analysis evaluated the prognostic validity and treatment-decision utility of postoperative circulating tumor DNA (ctDNA) in resected colorectal cancer.
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis and xerostomia syndrome caused by a novel claudin-10 variant in an adult with hypokalaemic metabolic alkalosis.
A man in his mid-30s presented with persistent hypokalaemia and was initially suspected to have Gitelman syndrome due to hypokalaemic metabolic alkalosis.
Glutaric aciduria type 1 presenting with Parkinsonism with presynaptic dopaminergic dysfunction in an adult female: a case report.
A 43-year-old woman presented with levodopa-responsive parkinsonism and presynaptic dopaminergic dysfunction. Genetic testing identified compound heterozygous variants in the GCDH gene, confirming a diagnosis of…
New pathogenic PTPN2 variant leading to childhood interstitial lung disease.
A 4-year-old boy presented with childhood interstitial lung disease, which was linked to a newly identified pathogenic variant in the PTPN2 gene.
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