Etiqueta: #FrontGenet
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Co-occurrence of Gitelman syndrome and turner syndrome: a Case Report and literature review
ObjectiveTo report a rare case of concurrent Gitelman syndrome (GS) and Turner syndrome (TS) and explore their interplay in driving a complex clinical phenotype.DesignA single-case report with literature review.MethodsA 34-year-old woman was evaluated …
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Beyond CCR5 and HLA: rare genetic variants in HIV acquisition and disease progression
The CCR5 locus and the HLA class I region, first identified through candidate gene studies, remain the most well-characterized host genetic factors associated with HIV acquisition and disease progression, respectively. To date, genome wide association …
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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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Homozygous familial hypercholesterolemia, experience with Evinacumab treatment in two Mexican pediatric patients: case report
Homozygous familial hypercholesterolemia (HoFH) is a rare and life-threatening genetic disorder characterized by extremely elevated low-density lipoprotein cholesterol (LDL-C) levels from birth, leading to accelerated atherosclerotic cardiovascular dis…
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Case Report: Novel homozygous pathogenic variant of the SPG20 gene causes the Troyer syndrome in China
Hereditary spastic paraplegia (HSP) comprises a group of neurodegenerative disorders characterized by progressive spasticity of the lower limbs. Troyer syndrome (MIM #275900), an autosomal recessive form of complicated HSP, was initially described in t…
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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…