Etiqueta: #FrontGenet
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Hemoglobinopathy diagnosis in LMICs: from hematological screening to molecular confirmation
Hemoglobinopathy diagnosis in low- and middle-income countries (LMICs) is limited not only by access to technology but also by attrition between screening, phenotypic resolution, molecular confirmation, counseling, and linkage to care. India illustrate…
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Longitudinal characterization of a Leigh-like presentation associated with the MT-ND4 m.11470A>C variant
Leigh syndrome comprises genetically heterogeneous mitochondrial disorders, but interpretation of rare mitochondrial DNA variants is often limited by sparse longitudinal data. We report a male patient followed from childhood to age 16 with the MT-ND4 m…
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Case Report: MYBPC1-associated congenital myopathy with tremor (CMYO16): a multigenerational family report
We report a family with congenital myopathy-16 (CMYO16; MIM 618524) due to a novel heterozygous MYBPC1 M-motif variant, c.779G>A p (Arg260His), in whom oral pyridostigmine was associated with apparent clinical benefit in all four affected members acros…
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Epilepsy genetics in Africa: a systematic review
BackgroundWhile our understanding of genetic epilepsies is growing, data from Africa remain scant. In this study, we reviewed the profile of epilepsy genetics in Africa.MethodsWe searched for studies in PubMed, Scopus, Google Scholar, and African Journ…
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Clinical characterization and in silico structural analysis of microtubule-related gene variants in eleven patients
ObjectiveThis study aimed to analyze associations of Microtubules (MTs) mutations with nervous system phenotypes, summarize mutation characteristics of genes including TUBA1A, TUBB2A, TUBB4A, and TUBGCP6, explore clinical phenotypic diversity and molec…
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The prevalence of Duchenne/Becker muscular dystrophy in the Russian Federation
IntroductionDuchenne and Becker muscular dystrophies (DMD/BMD) are among the most common inherited neuromuscular disorders worldwide. The reported prevalence of DMD is 7.1 cases per 100,000 adult males and 2.8 cases per 100,000 individuals in the gener…
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Dynamic tissue-specific mosaicism in constitutional non-supernumerary ring chromosome 21 with a Down syndrome-like phenotype: a case report and genotype-phenotype analysis
IntroductionRing chromosome 21 (r (21)) is a rare constitutional rearrangement involving terminal deletions and significant phenotypic heterogeneity. High-resolution genomic analyses have demonstrated that ring chromosomes may harbor complex genomic im…
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Exploratory mRNA and microRNA profiling identifies transcriptomic alterations in the PIK3CA-related overgrowth spectrum
BackgroundPIK3CA-related overgrowth spectrum (PROS) is a group of disorders caused by somatic mosaic mutations in the PIK3CA gene, characterized by tissue overgrowth affecting multiple organs, including the skin, adipose tissue, blood vessels, bones, a…
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Partial trisomy 19p13.3-p13.2 from antenatal diagnosis to 7-year follow-up: case report and literature review
Partial trisomy of the short arm of chromosome 19 (19p) is a rare chromosomal abnormality with significant clinical implications. We report the prenatal diagnosis and 7-year follow-up of a boy with partial trisomy 19p13.3-p13.2 and multiple congenital …