Categoría: Enfermedades Raras
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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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Case Report: Identification of two novel ALMS1 variants in a patient with a ciliopathy resembling Alström syndrome
BackgroundAlström syndrome (AS) is a rare autosomal recessive ciliopathy caused by biallelic pathogenic variants in the ALMS1 gene. The condition is characterized by a spectrum of clinical manifestations, including cone-rod dystrophy, sensorineural hea…
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Short CAG repeat variation as a regulatory factor in health and disease
Short cytosine-adenine-guanine (CAG) trinucleotide repeats, which encode polyglutamine (polyQ) tracts, are prevalent features of genes enriched in transcriptional and regulatory functions, including the androgen receptor (AR) and huntingtin (HTT). Whil…
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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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Novel variants in LSS related hypotrichosis simplex 14
BackgroundHypotrichosis simplex (HS) is a rare form of hereditary alopecia caused by a variety of gene variants, with onset in childhood. Few studies regarding LSS-related HS(HS 14) have been reported and genotype–phenotype correlations in the LSS gene…
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Efficacy of long-acting growth hormone in Axenfeld-Rieger syndrome with a novel 3.824 Mb 4q25 deletion: a Case Report and systematic literature review
BackgroundAxenfeld-Rieger syndrome (ARS) is a multisystem disorder primarily caused by PITX2 mutations. While eye and dental anomalies are classic, the role of PITX2 as a dosage-sensitive regulator of the human growth axis remains clinically under-reco…
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A de novo heterozygous PSTPIP1 variant associated with PAPA syndrome: a Chinese case report and literature review
Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominant hereditary autoinflammatory disease caused by PSTPIP1 gene variants and belongs to the PSTPIP1-associated inflammatory diseases (PAIDs). Its core clinical m…
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Case Report: clinical manifestations and imaging features associated with PANK2 c.940C>T variant in PKAN with symmetric basal ganglia calcification
BackgroundPantothenate kinase-associated neurodegeneration (PKAN) is the most common subtype of neurodegeneration with brain iron accumulation and is classically associated with pallidal iron deposition and the “eye-of-the-tiger” sign on MRI. However, …