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512 articles
September 202621
Whole-exome sequencing reveals a novel frameshift and a recurrent nonsense SPG11 variant causing rare familial amyotrophic lateral sclerosis type 5 in two consanguineous Pakistani families.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects both upper and lower motor neurons, disturbing communication between the brain and muscles.
The WNT/β-catenin Pathway and Matrix Metalloproteinase-9 in hypermobile Ehlers-Danlos Syndrome and Autism Spectrum Disorder: A Possible Connection.
This narrative review explores the connection between hypermobile Ehlers-Danlos Syndrome (hEDS) and Autism Spectrum Disorder (ASD), highlighting their symptom overlap and comorbidity.
Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.
This phase 3 randomized controlled trial evaluated the efficacy of DTX401 gene therapy in patients aged 8 years and older with glycogen storage disease type Ia (GSDIa).
Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.
Biallelic variants in VPS41, encoding a subunit of the HOPS complex, cause autosomal recessive spinocerebellar ataxia 29 (SCAR29), a rare neurodevelopmental disorder with an incompletely defined phenotypic and molecular…
Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.
This report details five women with cobalamin-related remethylation disorders (cbl-RD) who experienced nine pregnancies. All mothers received hydroxocobalamin treatment during pregnancy, with some also receiving betaine…
Successful preimplantation genetic testing for a de novo TP63 mutation using direct detection and embryo-based STR haplotyping in EEC syndrome.
A 34-year-old male with EEC syndrome was found to have a heterozygous TP63 c.925A > G variant through whole-exome sequencing.
Chromosomally normal twin pregnancy following transfer of euploid and chaotic embryos, including those with trisomy 21.
A 35-year-old woman with recurrent implantation failure underwent IVF with preimplantation genetic testing for aneuploidy, resulting in the transfer of one euploid female embryo and one chaotic male embryo with multiple…
Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants.
A 25-year-old male presented with Charcot-Marie-Tooth disease type 1 and mild intellectual disability. Genetic analysis revealed he was compound heterozygous for two pathogenic HARS1 variants: a maternally inherited…
Safety and efficacy of guanabenz in early-childhood onset vanishing white matter: primary analysis of a single-arm, phase 1/2 trial.
This single-arm, phase 1/2 trial evaluated the safety and efficacy of guanabenz in 31 children with early-childhood onset vanishing white matter.
Extra-Endocrine Features in Infancy as Early Clues to MEN2B.
This case series discusses five pediatric patients diagnosed with multiple endocrine neoplasia type 2B (MEN2B), all carrying the RET proto-oncogene mutation (M918T).
Biallelic SCO2 Variants Presenting as Motor-Predominant Axonal Neuropathy With Complex IV Deficiency.
SCO2 encodes a mitochondrial copper chaperone required for cytochrome c oxidase (COX) assembly and is classically associated with severe multisystem mitochondrial disease.
Late-Onset Tay-Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype.
Two female patients in their second decade presented with slowly progressive, lower limb-predominant flaccid weakness and tremor.
Boy in the Barrel: Excruciating Paroxysmal Pain Disorder Associated With an SCN9A Gain-of-Function Variant.
A young man presented with severe childhood-onset paroxysmal pain triggered by heat, alongside autonomic dysfunction and skeletal abnormalities.
Enamel pits and enamel developmental defects in tuberous sclerosis complex: A descriptive synthesis and pooled prevalence analysis.
This systematic review analyzed enamel pits and developmental defects in patients with tuberous sclerosis complex (TSC), synthesizing data from seven studies involving 217 patients.
The Clinical Application of Refined Risk Estimates Study in BRCA1 and BRCA2 Pathogenic Variant Carriers: A Randomized Controlled Trial.
This randomized controlled trial evaluated the impact of genotype-informed personalized cancer risk estimates (GRE) versus standard lifetime cancer risk estimates (SRE) on decisional conflict in women with BRCA1/BRCA2…
De Novo MFN2 p.Arg95Met in Severe Charcot-Marie-Tooth Disease Type 2A.
A 30-year-old Taiwanese woman presented with severe axonal sensorimotor neuropathy, characterized by early-onset weakness, distal wasting, optic atrophy, and bilateral sensorineural hearing loss.
The Epidemiology of PRSS1 Hereditary Pancreatitis and Its Clinical Implications: A Systematic Review.
This systematic review examined the epidemiology and clinical implications of PRSS1 hereditary pancreatitis (HP) across 68 studies.
Safety and efficacy of elexacaftor/tezacaftor/ivacaftor in adolescents and adults with cystic fibrosis and F508del-gating and F508del-residual function genotypes: results from an open-label extension study.
This phase 3 open-label extension study evaluated the long-term safety and efficacy of elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) in 251 adolescents and adults with cystic fibrosis and F508del-gating or…
Tandem Double Inversion Resolves the Structural Paradox Underlying Recurrent KAT6A::NCOA2 Fusion in Acute Myeloid Leukemia.
A case of acute myeloid leukemia (AML) presented with the rare KAT6A::NCOA2 fusion, typically associated with inv(8)(p11q13). Genomic profiling revealed an unexpected MTFR1::KAT6A rearrangement.
Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.
Phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG) is a rare, autosomal recessive disease caused by PMM2 deficiency, which impairs conversion of mannose-6-phosphate into mannose-1-phosphate (M1P) and…
Analysis of Genetic Factors in a Family With Short Stature.
To elucidate the genetic underpinnings of short stature in a familial cohort of five individuals.
August 20263
Treatment of multiple sclerosis with peptide-coupled red blood cells induces antigen-specific T regulatory cells.
This phase Ib clinical trial evaluated the safety and efficacy of peptide-coupled red blood cells (pcRBCs) in patients with multiple sclerosis (MS).
Calcitonin-negative medullary thyroid carcinoma in a young adult.
A young woman in her early 20s presented with a thyroid nodule and normal serum calcitonin levels, which typically indicate the absence of medullary thyroid carcinoma (MTC).
A novel FLNA p.Pro2469Ser variant is associated with impaired T and NK cell function and immune dysregulation.
FLNA encodes filamin A, a ubiquitously expressed actin-binding cytoskeletal protein that cross-links actin filaments and links them to membrane-associated signaling complexes.
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