Categoría: Frontiers in Genetics
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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…
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Expanding the mutational spectrum of congenital microcephaly in Pakistani families
Autosomal recessive primary microcephaly (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a markedly reduced head circumference (−3 to −5 standard deviations) at birth, with relatively preserved brain architecture. Aff…
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Case Report: genotype–phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction
BackgroundFilamin A (FLNA) mutations are associated with the development of numerous diseases and disorders. Although recent studies have shed light on genotype–phenotype relationships, the evidence remains fragmented.Case presentationHerein, we report…
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Retinitis pigmentosa and sensorineural deafness associated with a de novo DHX16 mutation: case report
BackgroundRetinitis pigmentosa and sensorineural deafness are two distinct clinical entities that can be caused by a variety of genetic mutations. The DHX16 gene, which encodes a protein involved in RNA processing, has been implicated in several geneti…