Categoría: Original Research
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Biallelic RSPH4A loss-of-function variants cause primary ciliary dyskinesia in a Chinese patient
BackgroundPrimary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by defective motile cilia function, affecting approximately one in 7,500 to one in 10,000 live births. Pathogenic variants in radial spoke head genes, inclu…
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Novel deep intronic variants in NTRK1 underlying congenital insensitivity to pain with anhidrosis
ObjectivesCongenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder caused by mutations in NTRK1 that is characterized by pain insensitivity, anhidrosis, and recurrent fever. While genetic testing is the gold standa…
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Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China
ObjectiveThis study aimed to delineate the prevalence and mutation spectrum of deafness-associated genes among newborns in a resource-limited region of China, and to assess the diagnostic yield of combined hearing and genetic screening.MethodsFrom May …
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The value of third-generation sequencing for neonatal screening of thalassemia in the Yulin region of Southern China
BackgroundThalassemia is one of the most prevalent and severe monogenic disorders worldwide. In China, a three-tiered prevention and control strategy has been established for this disease, comprising preconception carrier screening, prenatal diagnosis,…
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A comparative study of SNPscan/CNVplex assay and routine PCR in genetic analysis of thalassemia
BackgroundAccurate molecular diagnosis is essential for thalassemia prevention and carrier screening, particularly in high-prevalence regions. Conventional PCR-based methods are widely used in clinical practice but have limited ability to detect rare v…
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Screening of glucose-6-phosphate dehydrogenase deficiency in a cohort of 215,137 newborns: an epidemiological and pathogenic variant spectrum study in Yueyang, China
BackgroundGlucose-6-phosphate dehydrogenase (G6PD) deficiency is a prevalent inherited metabolic disorder, affecting approximately 500 million individuals worldwide. Current neonatal screening protocols necessitate continuous refinement of cut-off valu…
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Stepwise genetic testing strategy identified pathogenic variants in 10 Chinese duchenne muscular dystrophy patients
BackgroundDuchenne muscular dystrophy (DMD) results from pathogenic variants in the DMD gene. Despite routine screening using Multiplex Ligation-dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES), a subset of cases remains molecularl…
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Potential role of the Trpv4 c.1491+1G>A mutation in pulmonary fibrosis in a gene-edited mouse model
IntroductionTRPV4 is a non-selective cation channel of the TRPV family and plays a key role in fibrosis, but its pathological mechanisms in genetically susceptible individuals remain unclear. This study aimed to investigate the potential role of the Tr…
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From genes to generations: genetic evaluation and counseling for infertility and pregnancy loss
IntroductionUnderstanding the genetics of reproductive disorders is key to improving diagnosis, treatment, and overall reproductive health. This study aimed to describe the characteristics, assessment, investigations, and recommendations in patients se…
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Genetic heterogeneity correlated with phenotypic variability in 6 Chinese families with Alport syndrome
BackgroundAlport syndrome (AS) is a common hereditary kidney disease, mainly characterized by hematuria, progressive renal dysfunction, sensorineural hearing loss, and ocular symptoms, which significantly impacts patients the quality of life patients’ …