Trending archive
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512 articles
October 202614
Pediatric Spinal Cord Astrocytoma With Granular Cell-Like Morphology and KIAA1549::BRAF Fusion.
A pediatric patient presented with a spinal cord tumor exhibiting prominent granular cell-like features, complicating the initial diagnosis.
A Novel BORCS5 Loss-Of-Function Variant in a Patient With a Rare Neurodevelopmental Disorder.
The BORCS5 is an important and critical component of the BLOC-one-related complex (BORC), involved in kinesin-dependent anterograde lysosomal transport.
Identification of Variants in Two Families With Congenital Cataract by Whole Exome Sequencing.
Congenital cataract (CC) is an ophthalmic disorder diagnosed at birth or during early infancy, characterized by severe visual impairment and potential blindness.
A Novel De Novo MTM1 Insertion Frameshift Variant Causes X-Linked Myotubular Myopathy in a Chinese Female.
A 24-year-old woman presented with infantile hypotonia and progressive, asymmetric proximal weakness, including facial and ocular involvement.
Variants in CEP135 Cause Congenital Microcephaly and Primary Ciliary Dyskinesia.
Three children from two families presented with congenital microcephaly and chronic respiratory issues consistent with primary ciliary dyskinesia (PCD). Diagnostic testing revealed autosomal recessive variants in CEP135.
Tumor Profile, Clinical Features, and Outcomes in Individuals With Constitutional Trisomy 8: A Systematic Review of Case Reports and Case Series.
Constitutional trisomy 8 mosaicism (CT8M) is a rare chromosomal disorder with poorly characterized cancer risk. This systematic review aimed at summarizing reported cases of malignancy and associated clinical outcomes…
Mosaicism for Cohen-Gibson Syndrome in a Female Individual With Overgrowth and Neurodevelopmental Delay.
A 12-year-old girl presented with tall stature, dysmorphic features, developmental delay, and congenital anomalies. Genetic evaluation revealed a likely pathogenic mosaic variant in the EED gene, with varying allele…
A Case of Primary Intramedullary Infantile Fibrosarcoma With an RBPMS::NTRK3 Fusion and Response to Larotrectinib.
A 4-week-old infant presented with rapidly progressive cervical myelopathy due to primary intramedullary infantile fibrosarcoma.
A Novel FAM111A Frameshift Variant Associated With Osteoclast Necroptosis and KCS2-like Syndrome.
Kenny-Caffey syndrome type II (KCS2) is a rare genetic disorder characterized by skeletal abnormalities, impaired growth, and developmental delay.
Calcitonin-negative 'MTC-like' thyroid paraganglioma revealing an SDHD-related hereditary paraganglioma syndrome: functional confirmation of a non-canonical splice-site variant.
A 36-year-old woman presented with a 20-mm thyroid nodule classified as EU-TIRADS 4 and Bethesda III, with normal serum calcitonin levels.
DDX3Y loss-of-function variant in AZFa-like non-obstructive azoospermia highlights gaps in current Y-chromosome microdeletion testing.
A man with idiopathic non-obstructive azoospermia presented with an AZFa-like phenotype, characterized by elevated FSH and a normal karyotype.
Chatbot Intervention and Cancer Risk Knowledge in Adolescents and Young Adults With Cancer Predisposition: A Randomized Clinical Trial.
This multicentre randomized clinical trial evaluated whether a tailored electronic chatbot improved cancer-risk understanding among English-speaking adolescents and young adults aged 12 to 24 years with one of nine…
Retrospective RNA Sequencing Reclassifies a Historical t(5;12) Eosinophilic Neoplasm From Presumed PDGFRB Rearrangement to ETV6::ACSL6.
A woman with a chronic eosinophilic myeloid neoplasm had a t(5;12) that raised suspicion of PDGFRB involvement, but contemporary testing did not identify a rearrangement and empiric imatinib produced no meaningful…
Exceptional and Durable Response to Selpercatinib in a Patient with Apparently RET -Negative, HRAS -, and NF1 -Mutated Metastatic Medullary Thyroid Carcinoma.
A 50-year-old woman presented with rapidly progressive medullary thyroid carcinoma (Ki-67 30%) and extensive liver and bone metastases.
September 202610
Sex-Discordant Monochorionic Dizygotic Twins After Double Blastocyst Transfer: Blood Chimerism Demonstrated by Multimodal Genetic Testing.
A 38-year-old woman conceived through intracytoplasmic sperm injection and double blastocyst transfer, leading to monochorionic diamniotic twins. At 21 weeks, discordant external genitalia were noted.
Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing.
Duchenne/Becker muscular dystrophy (DMD/BMD) is caused by variants in the X-linked DMD gene-most commonly deletions, duplications, or point mutations, and only rarely by complex chromosomal rearrangements (CCRs).
When two rare diseases meet: atypical hemolytic uremic syndrome and alkaptonuria in two siblings.
Two brothers from a consanguineous family presented with recurrent episodes of atypical hemolytic uremic syndrome (aHUS) characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury.
A Heterozygous Variant in the GABBR2 Gene in a Girl With Clinical Classic Rett Syndrome.
A girl diagnosed with classic Rett syndrome exhibited developmental stagnation, loss of purposeful hand use, stereotypic movements, autonomic dysfunction, and behavioral issues.
FOXG1 syndrome: genetic background revealed by trio WES in case of a critically ill neonate.
A male neonate presented with hypotonia and abnormal respiratory effort at birth. Due to the serious and non-specific clinical signs, trio whole-exome sequencing (WES) was performed, revealing a de novo heterozygous…
A rare case of hereditary spastic paraplegia with homozygous mutation in the ZFYVE26 gene.
A 19-year-old female with consanguineous parents presented with gait disturbances, lower limb spasticity, and dysarthria. Neurological examination revealed motor and mental retardation, bilateral lower limb spasticity…
Severe neurodevelopmental phenotype with multisystem involvement in VPS16-related mucopolysaccharidosis-like syndrome.
A patient with biallelic VPS16 variants presented with profound developmental delay, early-onset epilepsy, and spasticity, alongside multisystem issues such as recurrent infections and neutropenia.
Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.
An adolescent patient with a Bartter-like phenotype presented with progressive nephrocalcinosis, hypercalciuria, and skin autoinflammation.
Effect of prenatal genetic counseling on anxiety and test attitudes in pregnant women: a randomized trial.
This randomized controlled trial assessed the impact of prenatal genetic counseling on anxiety and attitudes towards prenatal diagnostic tests in 66 pregnant women.
Circulating tumour DNA and its clinical relevance in predicting progression-free survival and overall survival in patients with advanced breast cancer: a systematic review and meta-analysis.
This systematic review and meta-analysis evaluated the prognostic value of circulating tumour DNA (ctDNA) in predicting progression-free survival (PFS) and overall survival (OS) in patients with advanced breast cancer…
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