Categoría: Original Research
-
Clinical application of long-read sequencing in newborn genetic screening for congenital adrenal hyperplasia
BackgroundScreening for congenital adrenal hyperplasia (CAH) relying solely on 17α-hydroxyprogesterone (17α-OHP) presents limited diagnostic performance, highlighting an urgent need to develop more robust screening strategies for neonates.MethodsWe con…
-
Identification and prenatal diagnosis of a novel likely pathogenic ANOS1 variant in a large Chinese Kallmann syndrome family
BackgroundThis study aimed to systematically analyze a Chinese family with Kallmann syndrome (KS), evaluate the pathogenicity of a candidate variant through co-segregation analysis and bioinformatic predictions, and provide clinical intervention for th…
-
Clinical and genetic features of syndromic craniosynostosis in 18 Chinese probands: novel candidate genes and phenotypes of known pathogenic genes
IntroductionCraniosynostosis is a common congenital disorder characterized by premature fusion of one or more cranial sutures, categorized into non-syndromic (NSCS) and syndromic craniosynostosis (SCS). SCS accounts for ∼30% of cases, often accompanied…
-
Preimplantation genetic testing and prenatal diagnosis of TANGO2 deficiency disorder with biallelic pathogenic variants using single-nucleotide polymorphism-based haplotyping and gap-polymerase chain reaction
IntroductionTANGO2 deficiency disorder (TDD), characterized by developmental delays, intellectual disability, gait incoordination, speech difficulties, seizures, and hypothyroidism, is a rare genetic disease caused by biallelic pathogenic variants of t…
-
NSF gene variants cause developmental and epileptic encephalopathy 96: expanding genotype and phenotypic spectrum with prenatal-onset features
BackgroundDevelopmental and epileptic encephalopathy 96 (DEE96, OMIM 619340) is a rare autosomal dominant disorder caused by heterozygous variants in the NSF gene, encoding a key AAA + ATPase involved in SNARE-mediated membrane fusion. To date, only fo…
-
Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome
ObjectiveStickler syndrome (SS) is a genetically and clinically heterogeneous connective tissue disorder. This study aimed to investigate the genetic etiology in a Chinese patient associated with SS and characterize the novel pathogenic variant.Methods…
-
Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases
IntroductionRare diseases affect approximately 6%–7% of the Brazilian population, representing a significant public health challenge due to diagnostic delays and inequitable access to genomic services. This study evaluates a 5-year implementation of ne…
-
Identification of common diagnostic biomarkers and immune landscapes in sepsis and acute kidney injury: a transcriptomic study integrating machine learning and single-cell analysis
BackgroundSepsis and acute kidney injury (AKI) are life-threatening conditions often coexisting as sepsis-associated AKI (S-AKI). However, their shared molecular mechanisms and immune heterogeneity remain unclear. This study aims to identify robust dia…
-
Biallelic variants in IBA57 with multiple mitochondrial dysfunction syndrome 3
BackgroundMultiple mitochondrial dysfunction syndrome type 3 (MMDS3; OMIM #615330) is a rare autosomal recessive disorder caused by mutations in IBA57. Its complex clinical presentation and molecular pathogenesis remain incompletely understood.MethodsT…
-
Novel variants of TP63 identified in Chinese families with split-hand/foot malformation
ObjectiveSplit-hand/foot malformation (SHFM) is a group of congenital birth defects affecting the hands and feet, significantly impairing patients quality of life. The TP63 gene encodes the p63 protein, heterozygous TP63 variants can cause SHFM. The ai…