Etiqueta: #FrontGenet
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CFTR gene variant detection in moroccan individuals via nanopore long-read sequencing
IntroductionCystic fibrosis (CF) is an autosomal recessive disease resulting from pathogenic CF transmembrane conductance regulator (CFTR) pathogenic gene variants. While CF’s frequency varies among ethnicities, its epidemiology, clinical manifestation…
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ORMDL3: from an asthma susceptibility gene to multi-disease associations
The ORMDL3 protein, encoded by the ORMDL3 gene, functions as a transmembrane protein in the endoplasmic reticulum. Initially identified through its genetic link to asthma susceptibility, ORMDL3 plays a key role in regulating sphingolipid metabolism by …
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Novel splice-site variants in TMPRSS3 impair hearing via exon skipping and abrogated protease activity
BackgroundHearing loss (HL) is genetically heterozygous, making its genetic diagnosis challenging. Identification of novel HL-associated genes and variants will enhance our understanding of the molecular mechanisms and improve genetic diagnosis. TMPRSS…
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A novel pathogenic APC variant identified in a Chinese pedigree with familial adenomatous polyposis
BackgroundFamilial adenomatous polyposis (FAP) is an autosomal dominant genetic disorder characterized by the development of numerous colorectal polyps and a high predisposition to colorectal cancer, primarily caused by germline variants in the APC gen…
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Case Report: Type II tyrosinemia caused by mutations at the c.843_844 inv p.(Trp282Gly) variant locus
ObjectiveTo identify the genetic etiology in a neonate with persistent hypertyrosinemia and characterize the functional impact of a novel TAT gene variant, c.843_844inv.MethodsA neonate suspected of having tyrosinemia type II following newborn screenin…
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Case Report: Biallelic PADI6 frameshift variants contribute to preimplantation embryonic lethality
ObjectivesPreimplantation embryonic lethality (PREMBL) is a major cause of female infertility, characterized by early embryonic arrest. Homozygous or compound heterozygous mutations in PADI6 underlie preimplantation embryonic lethality-2 (PREMBL2). Thi…
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SOX9 gene anomalies and campomelic / acampomelic campomelic dysplasia: case report and literature review
Campomelic dysplasia (CD) is a rare skeletal disorder characterized by the hallmark sign of bent femur or tibial bones or both. Subsequently, patients were identified as having features of CD but lacking the bent limbs. This constellation was later des…
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Identification of gene expression signatures associated with neuroinflammation in discogenic sciatica using machine learning and experimental validation
BackgroundSciatica is a debilitating condition characterized by pain radiating along the sciatic nerve, often manifesting due to underlying neuroinflammatory processes. Understanding the molecular mechanisms linking neuroinflammation to sciatica is ess…
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Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report
Whole-exome sequencing of the proband and the family revealed multi-locus pathogenic variants (MGVs) leading to multiple genetic diagnoses (MGDs), explaining the complex phenotype with neuromuscular, ocular, and craniofacial abnormalities. The proband …