https://www.frontiersin.org/journals/genetics RSS Feed for Frontiers in Genetics | New and Recent Articles en-us Frontiers Feed Generator,version:1 2026-08-14T15:35:58.534+00:00 60 https://www.frontiersin.org/articles/10.3389/fgene.2026.1787087 https://www.frontiersin.org/articles/10.3389/fgene.2026.1787087 2026-08-14T00:00:00Z Original Research Enkhjargal BayarsaikhanHyunsoo AhnSanguk KimYong-Beom ParkJae Hoon Lee https://www.frontiersin.org/articles/10.3389/fgene.2026.1914453 https://www.frontiersin.org/articles/10.3389/fgene.2026.1914453 2026-08-14T00:00:00Z Original Research Lina HuYuqiong ChaiXiaofei LiuYanan WangHongwei Jiang C) by whole exome sequencing (WES) and co-segregation analysis. Three affected family members (two males and one female) not only showed intellectual disability but also presented significant psychiatric symptoms and spatial memory deficits. The minigene assay further confirmed that this variant lead to exon 2 skipping.ResultsAccording to ACMG guidelines, We reclassified previously variant of unknown significance (VUS) into “likely pathogenic” through co-segregates analysis and minigene assay.ConclusionIt is worth noting that, unlike previous reports, our patients mainly manifested as intellectual disability combined with psychiatric symptoms, expanding the known phenotypic spectrum of GRIA3 gene. Moreover, this variant is the first reported, enriching the database and providing additional evidence to support genetic counselling and prenatal diagnosis.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1827471 https://www.frontiersin.org/articles/10.3389/fgene.2026.1827471 2026-08-14T00:00:00Z Technology and Code Shiyang LongQingting WeiYanni ZouYirui ZhouJie LeiJiaxu Li https://www.frontiersin.org/articles/10.3389/fgene.2026.1882506 https://www.frontiersin.org/articles/10.3389/fgene.2026.1882506 2026-08-13T00:00:00Z Review Yiming Yang https://www.frontiersin.org/articles/10.3389/fgene.2026.1799530 https://www.frontiersin.org/articles/10.3389/fgene.2026.1799530 2026-08-13T00:00:00Z Original Research Catriona J. MillerTheo PortlockDenis M. NyagaJustin M. O’Sullivan https://www.frontiersin.org/articles/10.3389/fgene.2026.1894075 https://www.frontiersin.org/articles/10.3389/fgene.2026.1894075 2026-08-13T00:00:00Z Brief Research Report Ana Luiza Meneguci Moreira FrancoDeborah AntunesAna Carolina Proença da FonsecaAna Clara Rodrigues Moreira GomesAna Carolina Ramos GuimarãesIeda Maria OrioliFlavia Martinez de Carvalho C) and rs7940667 (C>A). Genotyping of 132 affected families was performed. The transmission disequilibrium test was applied, and identified variants were analyzed in silico using VarSome and ClinVar. No statistically significant association was found for rs3829260 (G>C) or rs7940667 (C>A). Subsequently, all six exons of NECTIN1 were sequenced in 116 probands. Molecular modeling was then performed to evaluate the functional impact on protein structure.ResultsThree rare heterozygous variants were identified in five probands: two non-synonymous variants (p.(Arg199Gln) and p.(Gly44Ser)) and one synonymous variant p.(His394=). Molecular modeling suggested that p.(Arg199Gln) and p.(Gly44Ser) could locally impact the structural dynamics and glycosylation pattern.ConclusionThese findings show the potential involvement of NECTIN1 in orofacial clefts and suggest that rare genetic variants may contribute to disease susceptibility.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1877595 https://www.frontiersin.org/articles/10.3389/fgene.2026.1877595 2026-08-12T00:00:00Z Original Research Guquan ChenJiefeng ZhangLinfu ZhaoJianyou Zhu https://www.frontiersin.org/articles/10.3389/fgene.2026.1907806 https://www.frontiersin.org/articles/10.3389/fgene.2026.1907806 2026-08-12T00:00:00Z Original Research Xingyu MiShifan WuLiang Xiao https://www.frontiersin.org/articles/10.3389/fgene.2026.1863034 https://www.frontiersin.org/articles/10.3389/fgene.2026.1863034 2026-08-12T00:00:00Z Original Research Jose Hector GalvezScott MastromatteoKieran O’NeillRobert EveleighHaig DjambazianBhooma ThiruvahindrapuramEric ChuahShu-Huang ChenAmirhossein HajianpourZhuozhi WangTara A. PatonSachin DesaiSanjeev PullenayegumLan HePawan PandohYongjun ZhaoKaren MungallAndrew J. MungallRichard F. WintleGuillaume BourqueStephen W. SchererSteven JonesMark LathropMeredith McLarenJiannis Ragoussis https://www.frontiersin.org/articles/10.3389/fgene.2026.1889940 https://www.frontiersin.org/articles/10.3389/fgene.2026.1889940 2026-08-12T00:00:00Z Original Research Rui YeZhihua XuYehai Liu https://www.frontiersin.org/articles/10.3389/fgene.2026.1827636 https://www.frontiersin.org/articles/10.3389/fgene.2026.1827636 2026-08-12T00:00:00Z Original Research Ahmed El HosseinyMeriem YagoubiAhmed MoustafaAsma Amleh https://www.frontiersin.org/articles/10.3389/fgene.2026.1909402 https://www.frontiersin.org/articles/10.3389/fgene.2026.1909402 2026-08-12T00:00:00Z Original Research Jing ChenShuang ChenXin-yi ZhuWei SuWen-Han ZhangDan GaoZhi-sheng LiuJing-jing LiHong-min Zhu T (p. Arg106Trp; NM_001113491.2) missense mutation corresponding to c.262C>T (p. Arg88Trp; NM_006640.4) constituting a recurrent hotspot that accounts for approximately 55% of HNA families in which a pathogenic SEPTIN9 variant can be identified. Although well documented in Caucasian and some Asian populations, reports in the Chinese population remain scarce, and the full phenotypic spectrum and optimal management strategy are incompletely defined.MethodsPathogenic variants were identified by whole-exome sequencing (WES) of the proband and confirmed by Sanger sequencing in available relatives.ResultsWe report a three-generation Chinese pedigree harboring the SEPTIN9 R106W mutation. The proband, a 34-year-old female, experienced a painless, self-limiting left upper limb weakness at age nine that resolved spontaneously after 6 months, following a 20-year asymptomatic period. She relapsed postpartum at age 29 with bilateral upper limb pain, weakness, and atrophy, resulting in residual neurological deficits. Her 5-year-old daughter presented with infection-triggered classic childhood HNA, exhibiting distinctive facial features (hypertelorism, epicanthal folds, short palpebral fissures, microstomia, and neck webbing), scapular winging, and severe right upper-limb motor impairment. The child showed functional improvement temporally associated with treatment following corticosteroid pulse therapy, neurotrophic support, and a structured, phased rehabilitation protocol. The proband’s father had atypical hand numbness and tremor in young adulthood and later died of systemic amyloidosis at age 66, but his SEPTIN9 genotype could not be determined because genetic testing was not performed. This pedigree demonstrates marked intrafamilial variable expressivity.DiscussionThis report delineates the broad clinical spectrum associated with the SEPTIN9 R106W mutation in a Chinese pedigree, spanning from childhood to adulthood. Infection and childbirth were identified precipitating factors. The pronounced phenotypic variability underscores the necessity of early molecular diagnosis and cascade screening. Furthermore, prompt multidisciplinary management combining immunomodulation and structured rehabilitation achieved substantial functional recovery in the pediatric patient, highlighting the critical role of active inter vention in childhood-onset HNA.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1880490 https://www.frontiersin.org/articles/10.3389/fgene.2026.1880490 2026-08-12T00:00:00Z Original Research Shaopei YeLan WangPeng Chen https://www.frontiersin.org/articles/10.3389/fgene.2026.1913487 https://www.frontiersin.org/articles/10.3389/fgene.2026.1913487 2026-08-12T00:00:00Z Original Research Tianyi ShiXiucai YeZeng ZouWenyu XiTetsuya Sakurai https://www.frontiersin.org/articles/10.3389/fgene.2026.1815586 https://www.frontiersin.org/articles/10.3389/fgene.2026.1815586 2026-08-10T00:00:00Z Original Research Liangcheng Zhao https://www.frontiersin.org/articles/10.3389/fgene.2026.1894466 https://www.frontiersin.org/articles/10.3389/fgene.2026.1894466 2026-08-10T00:00:00Z Original Research Peiran ZhaoXiaolong QiuQingying LinTing HuangYinglin ZengJinfu ZhouLiangpu Xu https://www.frontiersin.org/articles/10.3389/fgene.2026.1913168 https://www.frontiersin.org/articles/10.3389/fgene.2026.1913168 2026-08-10T00:00:00Z Case Report Fan YangXiaoqi WangYan LiKaijie SuRan DingLinlin WuGuorong MaJianjie YangZhongxin Li T p.(Pro44Leu), extremely rare in public databases and classified as a variant of uncertain significance.ConclusionThis is the first report of the TRPC6 p.Pro44Leu variant, expanding the variant spectrum of TRPC6-associated FSGS. The clinical decision to withhold immunosuppression was guided primarily by the patient’s phenotype (young age, sub-nephrotic proteinuria, FSGS-NOS, and no secondary causes); the TRPC6 variant, although classified as a VUS, provided supportive evidence for a genetic etiology and reinforced this management approach. This case demonstrates that genetic testing can guide personalized management in young patients with FSGS, offering a practical framework for avoiding unnecessary treatment-related morbidity. This case also illustrates that cost and psychological barriers can delay genetic diagnosis and highlights the value of early supportive therapy in genetic FSGS.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1921001 https://www.frontiersin.org/articles/10.3389/fgene.2026.1921001 2026-08-10T00:00:00Z Editorial Katsuhiro YoshimuraDaniela B. Rodriguez-PereraRongzhang DouJohannes Fahrmann https://www.frontiersin.org/articles/10.3389/fgene.2026.1823611 https://www.frontiersin.org/articles/10.3389/fgene.2026.1823611 2026-08-10T00:00:00Z Original Research Buhe BaoMingxuan YuWei PangRuilin WangWenbin DongYing BaiRui ShiRenjie Wang https://www.frontiersin.org/articles/10.3389/fgene.2026.1855173 https://www.frontiersin.org/articles/10.3389/fgene.2026.1855173 2026-08-07T00:00:00Z Original Research Xingpei LiChunlin ChenHuibing LiYiru HeKailang TangGuanqiao LaiZiyang YangWushu ChenHuihui Yang