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671 articles
September 202624
Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.
A 5-year-old boy with neurodevelopmental delay had skeletal foot deformities, nonspecific dysmorphic features, convergent strabismus, and behavioral abnormalities. Initial genome sequencing was nondiagnostic.
Expanding the Morphologic, Clinical, and Molecular Spectrum of Succinate Dehydrogenase A (SDHA)-Deficient Renal Cell Carcinoma: A Case Series With Review of Literature.
This multi-institutional case series examined five SDHA-deficient renal cell carcinomas (RCCs). Patients had a median age of 40 years, with male predominance.
Immunogenicity and safety of prophylactic HPV vaccines in people living with HIV: A systematic review and meta-analysis.
This systematic review and meta-analysis evaluated the immunogenicity and safety of prophylactic HPV vaccines in people living with HIV (PLWH). The analysis included 12 studies with 1,493 participants for HPV16.
Potential contributors to variable penetrance of NOTCH3 p.Arg1231Cys Variant.
Two patients with the NOTCH3 p.Arg1231Cys variant presented with early-onset dementia, strokes, and extensive leukoencephalopathy.
Clinical characteristics of THAP1 related dystonia: a case report with phenotypic review.
A 58-year-old man presented with dysphagia and dysarthria at age 22, followed by progressive dystonic posturing affecting his upper limbs, face, neck, and lower limbs.
Hereditary connective tissue disorders in unselected patients with spontaneous cervical artery dissection: a targeted next generation sequencing approach and systematic review.
This study investigated the prevalence of clinically relevant genetic variants in 183 unselected patients with spontaneous cervical artery dissection (sCeAD) using targeted next-generation sequencing.
Distribution of CYP2C19 polymorphism and predicted metabolizer phenotypes in the Indian population: A systematic review.
This systematic review and meta-analysis examined the prevalence of CYP2C19 polymorphisms and predicted metabolizer phenotypes in the Indian population.
Unique Thyroid Carcinoma With Somatic Inactivating TSC2 Mutations, Follicular and Melanocytic Differentiation and Distinct Morphologic Features.
Thyroid carcinomas with mutations in the TSC2 gene have been described rarely. Here, we report a unique thyroid carcinoma that has somatic mutations in TSC2 , follicular and melanocytic differentiation and distinct…
Neonatal Presentation of Suspected Vici Syndrome: A Case Report with Multisystem Features.
A newborn born to consanguineous parents, with a sibling who had died of an unspecified cause, presented with hypopigmentation, generalized hypotonia, recurrent severe infections, developmental delay, and cleft palate.
Impact of Baseline Polyneuropathy Severity on Eplontersen Efficacy in the NEURO-TTRansform Clinical Trial.
This post hoc analysis of the NEURO-TTRansform trial evaluated the effect of baseline severity of hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) on the efficacy of eplontersen.
Genomic Profiling of Anophthalmia/Microphthalmia-Associated CNVs Reveals Complex Genotype-Phenotype Correlations and Incomplete Penetrance.
This case report discusses four families with anophthalmia/microphthalmia (A/M) and associated copy number variations (CNVs).
A Novel BRCA1 Pathogenic Variant in Tunisian Patient With High Grade Ovarian Cancer: Favorable Therapeutic Response to Olaparib.
A 50-year-old woman presented with severe anemia due to heavy menometrorrhagia. Initial evaluations were unremarkable, but exploratory laparotomy revealed a peritoneal nodule.
Nephrogenic Syndrome of Inappropriate Antidiuresis: Case Report and Genetic Perspectives.
A 3-year-old male presented with intermittent convulsions and chronic hyponatremia. Genetic testing revealed a de novo hemizygous variant in the AVPR2 gene, confirming nephrogenic syndrome of inappropriate antidiuresis…
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.
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