Etiqueta: #FrontGenet
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Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain
Elective Genomic Testing (EGT) can identify individuals at risk for actionable conditions that would not come to clinical attention following current testing guidelines. We describe the results of a checkup unit from a leading Spanish University hospit…
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Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort
IntroductionHypophosphatasia (HPP) is a rare inherited metabolic disease caused by mutations in the ALPL gene. The disease is heterogeneous, complicating its diagnosis and delaying optimal management, leading to severe or lethal outcomes such as failur…
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Multiple susceptibility enhancer variants increasing ADD3 expression predisposes to biliary atresia risk
BackgroundNon-syndromic biliary atresia (BA) is a multifactorial disorder with a poorly understood genetic basis. We previously identified 154 BA-associated SNPs spanning the ADD3 locus, which harbors the most strongly associated common variants in Asi…
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Coffin–Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling
BackgroundCoffin–Lowry syndrome (CLS) is a rare X-linked disorder caused by pathogenic variants in RPS6KA3, presenting with intellectual disability, distinctive facial and skeletal features, and variable systemic involvement. Advances in genomic techno…
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Retrospective analysis of non-invasive prenatal testing: a population study involving 19,835 participants in the Shaoyang area
BackgroundThis cohort study aimed to evaluate the clinical efficacy of Non-invasive prenatal testing (NIPT) in detecting fetal chromosomal abnormalities within a pregnant population in the Shaoyang area, and to further investigate the potential correla…
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Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy
BackgroundFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by GLA gene mutations, leading to deficient α-galactosidase A (α-Gal A) activity and progressive accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine …
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Case Report: Myoclonic and tremulous movements associated with COQ8A-related coenzyme Q10 deficiency type 4
BackgroundPrimary coenzyme Q10 (CoQ10) deficiency is a rare, treatable mitochondrial disorder often caused by biallelic pathogenic variants in COQ8A gene (also known as ADCK3). It typically manifests as childhood-onset cerebellar ataxia with variable m…
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TPM1-p.E181K mutation suppresses CaMKII/HDAC4 signaling pathway leading to pediatric restrictive cardiomyopathy
BackgroundThis study aims to elucidate the pathogenicity of the TPM1 mutation (NM_001018005.2:c.541G>A, p. Glu181Lys) in restrictive cardiomyopathy (RCM), establish its ACMG pathogenicity classification, and report for the first time its association wi…
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Genomic and ancestral variations linked to the development of post-acute sequelae of SARS-CoV-2 infection in Indian populations
BackgroundSusceptibility to infectious diseases is a result of complex interactions between genomic, environmental, and clinical factors. COVID-19 severity and post-acute sequelae of COVID-19 (PASC) vary widely among individuals, yet its genetic determ…
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Familial multiple fetal cerebral arteriovenous malformations: a case report of maternal genetic susceptibility and fetal manifestation
IntroductionCerebral arteriovenous malformations (AVMs) are rare vascular anomalies that can present significant clinical challenges, especially when occurring in multiple sites. Hereditary hemorrhagic telangiectasia (HHT), a genetic disorder may be ca…