Categoría: Original Research
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Expanding the clinical and mutational spectrum of hereditary spastic paraplegia type 4 in a cohort of patients from central China
BackgroundMutations in the SPAST gene cause autosomal dominant hereditary spastic paraplegia (HSP) type 4 (SPG4), which is the most common type of HSP with variable frequencies in different ethnic backgrounds. The clinical and genetic characteristics o…
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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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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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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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Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity
IntroductionNext-generation sequencing (NGS) has transformed the genetic diagnosis of human diseases, yet many patients remain unsolved due to the complexity of variant interpretation. Manual curation of candidate variants is effective but time-consumi…
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Defects in PDIA4 increase individuals’ susceptibility to congenital heart disease
IntroductionCongenital heart disease (CHD) comprises structural abnormalities of the heart and major blood vessels arising during fetal development. Protein disulfide isomerase family member 4 (PDIA4) facilitates protein folding processes. However, its…
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Prognosis of pediatric restrictive cardiomyopathy: more severe in sarcomeric variants
Restrictive cardiomyopathy (RCM) is the most severe type of cardiomyopathy in children with a very poor prognosis. RCM is often diagnosed between 6 and 10 years old and is predominantly of genetic origin. We conducted a retrospective study of 53 patien…
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Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families
IntroductionCongenital cataract is a major cause of blindness and severe visual impairment in children. It may occur as an isolated ocular abnormality or in combination with microcornea, microphthalmia, aniridia, or glaucoma. It can also be part of syn…