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Synchronous lung and multiple soft tissue metastases developed from osteosarcoma of tibia: a rare case report and genetic profile analysis
BackgroundOsteosarcoma is the most common primary malignant bone tumor with a highly metastatic propensity in children and young adolescents. The...
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Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases
BackgroundThere is a gap in the literature regarding genetic underpinnings of pediatric autoimmune CNS diseases. This study explored rare gene...
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Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports
BackgroundRetinitis pigmentosa is a group of rare hereditary retinal dystrophy diseases that lead to difficulty seeing at night, progressive loss of...
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Shift from severe hypotension to salt-dependent hypertension in a child with autosomal recessive polycystic kidney disease after bilateral nephrectomies: a case report
BackgroundAutosomal recessive polycystic kidney disease (ARPKD) is a significant cause of morbidity and mortality in infants and children. In severe...
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NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death
BackgroundClinical studies on progressive familial intrahepatic cholestasis (PFIC) type 5 caused by mutations in NR1H4 are limited.
Methods ...
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PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review
BackgroundPTEN hamartoma tumour syndrome (PHTS) is a rare hereditary disorder caused by germline pathogenic mutations in the PTEN gene. This study...
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In Silico Analysis of Functional SNPs in Genes of Complete Androgen Insensitivity Syndrome (CAIS): A Retrospective, Case–Control Study
BackgroundComplete androgen insensitivity syndrome (CAIS) is one of the categories of androgen insensitivity syndrome (AIS) described as complete...
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First report of familial mixed phenotype acute leukemia: shared clinical characteristics, Philadelphia translocation, and germline variants
While our understanding of the molecular basis of mixed phenotype acute leukemia (MPAL) has progressed over the decades, our knowledge is limited and...
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Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot–Marie–Tooth Disease
BackgroundTo identify genetic causes in 40 whole exome sequencing (WES)-negative Charcot–Marie–Tooth (CMT) families and provide a summary of the...
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An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia
PurposeThe cystic fibrosis transmembrane conductance regulator (CFTR) is the most common causative gene attributed to congenital obstructive...
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A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023
BackgroundInherited retinal degenerations (IRDs) are a group of rare genetic conditions affecting retina of the eye that range in prevalence from 1...
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Olaparib for Chinese metastatic castration-resistant prostate cancer: A real-world study of efficacy and gene predictive analysis
To evaluate the real-world effectiveness and gene predictive analysis of olaparib in Chinese patients with metastatic castration-resistant prostate...
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Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco
BackgroundCongenital muscular dystrophies (CMD) and congenital myopathies (CM) are clinically and genetically heterogeneous groups of neuromuscular...
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Identification of causative gene variants for patients with known monogenic diabetes using a targeted next-generation sequencing panel in a single-center study
AimsWe aimed to verify the usefulness of targeted next-generation sequencing (NGS) technology for diagnosing monogenic diabetes in a single center.
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Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes
Hereditary elliptocytosis (HE) and pyropoikilocytosis (HPP) are considered a group of hemolytic anemias (HE/HPP) due to inherited abnormalities of...
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Novel Mutations Reduce Expression of Meiotic Regulators SYCE1 and BOLL in Testis of Azoospermic Men from West Bengal, India
We investigated the polymorphisms/mutations in synaptonemal complex central element protein 1 (SYCE1) and CDC25A mRNA-binding protein (BOLL) to test...
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Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1
BackgroundInfantile liver failure syndrome type 1 (ILFS1, OMIM #615,438), caused by leucyl-tRNA synthase 1 ( LARS1 , OMIM *151,350) deficiency, is a...
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Iron overload due to SLC40A1 mutation of type 4 hereditary hemochromatosis
Hereditary hemochromatosis type 4 is an autosomal-dominant inherited disease characterized by a mutation in the SLC40A1 gene encoding ferroportin....
