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Potential unreliability of ALK variant allele frequency in the efficacy prediction of targeted therapy in NSCLC
Anaplastic lymphoma kinase ( ALK ) is the most common fusion gene involved in non-small cell lung cancer (NSCLC), and remarkable response has been...
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De novo ADGRV1 variant in a patient with ictal asystole provides novel clues for increased risk of SUDEP
BackgroundVarious cardiac and autonomic manifestations are frequently reported during seizures. Among the seizure-related arrhythmia, ictal...
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A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report
BackgroundGorlin syndrome (GS) is a rare genetic disorder inherited in an autosomal dominant manner caused by genetic variants in PTCH1 , SUFU, or PTCH2...
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Familial acute aortic dissection associated with a novel ACTA2 germline variant
Aortic dissection is a life-threatening cardiovascular disease. Hereditary disorders are responsible for a small percentage of cases. Nonetheless, it...
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Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa
BackgroundUsher syndrome (USH) is an autosomal recessive disorder primarily responsible for deaf-blindness. Patients with subtype Usher syndrome type...
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Identification of primary copy number variations reveal enrichment of Calcium, and MAPK pathways sensitizing secondary sites for autism
BackgroundAutism is a neurodevelopmental condition with genetic heterogeneity. It is characterized by difficulties in reciprocal social interactions...
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Case report of a novel alpha1-antitrypsin null variant in Türkiye: Q0RİZE
BackgroundAlpha1-antitrypsin (AAT) is a serine protease inhibitor that serves as a counterbalance to the activity of elastases, e.g., neutrophil...
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Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene
BackgroundNoonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in...
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The influence of culture and cognitive reserve on the clinical presentation of behavioural-variant frontotemporal dementia
Characterisation of the clinical profile of behavioural-variant frontotemporal dementia (bvFTD) has predominantly been based on Western samples. Some...
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A lung adenocarcinoma patient harboring MET c. 3028 + 2 T >A variant sensitive to crizotinib treatment
Several studies have reported that patients harboring MET-ex14 skip** benefit from MET tyrosine kinase inhibitors (TKIs) such as crizotinib,...
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Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder
Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable common childhood-onset neurodevelopmental disorder. Some rare copy number...
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A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports
BackgroundHereditary spastic paraplegia 7 (SPG7) is one of the subtypes of autosomal-recessive hereditary spastic paraplegia, which is a clinically...
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Elevated common variant genetic risk for tourette syndrome in a densely-affected pedigree
Tourette syndrome (TS) is a highly heritable neuropsychiatric disorder with complex patterns of genetic inheritance. Recent genetic findings in TS...
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Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case
BackgroundIn this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are...
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High-resolution structural variant profiling of myelodysplastic syndromes by optical genome map** uncovers cryptic aberrations of prognostic and therapeutic significance
Chromosome banding analysis (CBA) remains the standard-of-care for structural variant (SV) assessment in MDS. Optical genome map** (OGM) is a...
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A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder
Human exocyst complex is an evolutionary conserved multimeric complex composed of proteins encoded by eight genes EXOC1-EXOC8 . It is known that the...
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Variant allele frequency in circulating tumor DNA correlated with tumor disease burden and predicted outcomes in patients with advanced breast cancer
PurposeIn patients with first-line advanced breast cancer (ABC), the correlation between ctDNA variant allele frequency (VAF) and tumor disease...
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Clonogenic assays improve determination of variant allele frequency of driver mutations in myeloproliferative neoplasms
Molecular diagnostics moves more into focus as technology advances. In patients with myeloproliferative neoplasms (MPN), identification and...
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Case report : a novel ASXL3 gene variant in a Sudanese boy
BackgroundBainbridge-Ropers syndrome (BRPS) [OMIM#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor development with...
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Pediatric meningioma with a Novel MAML2-YAP1 fusion variant: a case report and literature review
BackgroundPediatric meningioma with YAP1 fusion is a rare subset of meningiomas. Currently, there are lack of integrated clinical, radiological, and...
