Categoría: Frontiers in Genetics
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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…
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A novel TRPC6 variant (c.131C>T, p.(Pro44Leu)) associated with focal segmental glomerulosclerosis: a case report
BackgroundPathogenic variants in the transient receptor potential cation channel subfamily C member 6 (TRPC6) cause autosomal dominant focal segmental glomerulosclerosis (FSGS). We report a patient with early-onset FSGS carrying a novel TRPC6 variant n…
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Case Report: Functional validation of a PKD1 c.7489 + 5G>A variant in an ADPKD family
BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is most commonly caused by pathogenic variants in PKD1. Here, we reported the functional characterization of an intronic PKD1 variant identified in an ADPKD-affected family and its subseque…
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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…
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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…
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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…
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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…
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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…
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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…
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Case Report: First case of paternal mosaicism in Snijders Blok–Fisher syndrome
Snijders Blok–Fisher syndrome (SNIBFIS; OMIM #618604) is a rare autosomal dominant neurodevelopmental disorder caused mainly by de novo variants in POU3F3 gene. Here, we report for the first time, two affected siblings harboring a truncating POU3F3 var…