https://www.frontiersin.org/journals/genetics RSS Feed for Frontiers in Genetics | New and Recent Articles en-us Frontiers Feed Generator,version:1 2026-11-12T16:47:47.507+00:00 60 https://www.frontiersin.org/articles/10.3389/fgene.2026.1995121 https://www.frontiersin.org/articles/10.3389/fgene.2026.1995121 2026-11-12T00:00:00Z Review Dubala WuYaxuan JiaoBinhong WenTing WangTianwei ZhangSile HuChun LiTiecheng WuBaoli YuJianghong Wu https://www.frontiersin.org/articles/10.3389/fgene.2026.1920571 https://www.frontiersin.org/articles/10.3389/fgene.2026.1920571 2026-11-12T00:00:00Z Original Research Hongjun LiLin LiXudong YuQiu GuoMin Xia https://www.frontiersin.org/articles/10.3389/fgene.2026.1962821 https://www.frontiersin.org/articles/10.3389/fgene.2026.1962821 2026-11-12T00:00:00Z Case Report Liang ZhaoMeng WangXiaoyan PengJiaoping WanNaming WuShan Jiang T, p. R765C from the mother) but exhibited markedly different clinical manifestations: the elder brother presented with chronic elbow ulcer, severe nail damage, and partial preservation of lingual temperature sensation with mild intellectual disability, whereas the younger brother had recurrent painless fractures, severe knee joint destruction, inability to stand independently, and severe intellectual disability with relatively mild skin and soft tissue involvement. A structured literature review identified 27 CIPA sibling families, among which phenotypic differences mostly manifested as age-positive severity or age-independent phenotypes. In contrast, our siblings exhibited a rare age-inverse divergence across distinct organ systems under an identical genotype. The elder brother was predominantly affected by skin and soft tissue, whereas the younger brother suffered from severe skeletal complications. This phenotypic divergence is unlikely to be fully explained by age or cumulative injury alone. These findings highlight this unexpected age-inverse phenotypic divergence among siblings with identical NTRK1 genotype, emphasizing the need for independent, comprehensive multi-organ assessments for each CIPA patient rather than predicting disease patterns in siblings solely based on the proband’s phenotype.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.2051642 https://www.frontiersin.org/articles/10.3389/fgene.2026.2051642 2026-11-12T00:00:00Z Editorial Elena CriscuoloAlfredo Berzal-Herranz https://www.frontiersin.org/articles/10.3389/fgene.2026.1955699 https://www.frontiersin.org/articles/10.3389/fgene.2026.1955699 2026-11-12T00:00:00Z Case Report Ling GaoZhenguo ShiYanli HuangMiaosen HuangYingnan MoYong WangHaipeng Jin T and c.334C>T, but their allelic phase was not established. An exploratory pooled analysis included 131 patients, of whom 80 had classifiable ambulatory status. In univariable mean bias-reduced cumulative logit regression, the presence of at least one truncating variant was associated with lower odds of worse ambulatory status (odds ratio [OR], 0.30; 95% confidence interval [CI], 0.12–0.78; P = 0.013). The univariable Firth binary sensitivity analysis showed a similar association with wheelchair dependence or no functional ambulation (OR, 0.31; 95% CI, 0.09–0.99; P = 0.048). After adjustment for disease duration, the genotype estimate remained in the same direction but was imprecise (OR, 0.35; 95% CI, 0.12–1.04; P = 0.059), while longer duration was associated with worse ambulatory status (OR per 10 years, 2.22; 95% CI, 1.51–3.26; P < 0.001).ConclusionThe clinical findings and two heterozygous CYP7B1 nonsense variants support SPG5 as the leading diagnosis, although their phase and combined functional effect remain unconfirmed. In pooled cross-sectional data, truncating-variant status showed a consistent univariable association with less severe ambulatory impairment, but the adjusted estimate was uncertain. Larger cohorts with standardized outcomes are needed to assess this genotype–phenotype association.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.2031856 https://www.frontiersin.org/articles/10.3389/fgene.2026.2031856 2026-11-12T00:00:00Z Original Research Yuzhen ShiXiumei Liu https://www.frontiersin.org/articles/10.3389/fgene.2026.2011975 https://www.frontiersin.org/articles/10.3389/fgene.2026.2011975 2026-11-11T00:00:00Z Original Research Honglin ZhangLei ZhengLetian WeiTao Jiang https://www.frontiersin.org/articles/10.3389/fgene.2026.1859530 https://www.frontiersin.org/articles/10.3389/fgene.2026.1859530 2026-11-11T00:00:00Z Original Research Chelang’at SitonikMacDonald Bright JumboDan MakumbiManje GowdaB. M. Prasanna https://www.frontiersin.org/articles/10.3389/fgene.2026.1937504 https://www.frontiersin.org/articles/10.3389/fgene.2026.1937504 2026-11-11T00:00:00Z Original Research Xueqi LiuWenpeng WangTianxiang YangTao MaDesheng Chen https://www.frontiersin.org/articles/10.3389/fgene.2026.1996339 https://www.frontiersin.org/articles/10.3389/fgene.2026.1996339 2026-11-11T00:00:00Z Data Report Qingxiang ZengShan JiangJing GuoShisong ZhangXinmin LuDaiping JiangYu ZhongZhihuan CaiJiajun ZhouFugui LiJianfeng Ren https://www.frontiersin.org/articles/10.3389/fgene.2026.1814203 https://www.frontiersin.org/articles/10.3389/fgene.2026.1814203 2026-11-11T00:00:00Z Original Research Bo YangZhiping ChenHuiling YuZhu Liu https://www.frontiersin.org/articles/10.3389/fgene.2026.1956770 https://www.frontiersin.org/articles/10.3389/fgene.2026.1956770 2026-11-10T00:00:00Z Original Research Abeer Al TuwaijriYusra AlyafeeAlaa ZareRaniah S. AlotibiAlyaa Farouk Abdelfattah IbrahimSalem AlawbathaniHamad AlHomidaniShouq AlzaaqiMadawi AlhassounYousef AlharbiHadil Alahdal https://www.frontiersin.org/articles/10.3389/fgene.2026.1958808 https://www.frontiersin.org/articles/10.3389/fgene.2026.1958808 2026-11-10T00:00:00Z Original Research Xin ZhouYang LiuXia YiAojie Lian https://www.frontiersin.org/articles/10.3389/fgene.2026.1965445 https://www.frontiersin.org/articles/10.3389/fgene.2026.1965445 2026-11-10T00:00:00Z Original Research Yongchao LiuHa Na JangDavide PradellaJeong-U. HongHeegyum MoonHina AshrafXuexiu ZhengClaudia GhignaHaihong Shen https://www.frontiersin.org/articles/10.3389/fgene.2026.1989287 https://www.frontiersin.org/articles/10.3389/fgene.2026.1989287 2026-11-10T00:00:00Z Original Research Yu XiangLin WuPiyun Zhang https://www.frontiersin.org/articles/10.3389/fgene.2026.1940592 https://www.frontiersin.org/articles/10.3389/fgene.2026.1940592 2026-11-10T00:00:00Z Case Report Wen-qi ChenYan-xin MengKe-na HuXiao-lin HouJun DuanZhao-xi WangKai YangHua-ying HuJing Zhang A(p.Y260X), was identified by whole-exome sequencing and co-segregated with the renal phenotype among the available tested family members. The variant introduces a premature termination codon within the PBX1 homeodomain and is consistent with a predicted loss-of-function effect. Exploratory structural and transcriptomic analyses yielded hypothesis-generating observations but did not establish the molecular mechanism of the variant.ConclusionWe identified a novel heterozygous PBX1 variant, NM_002585.4: c.780C > A(p.Y260X), in a Chinese family with familial renal hypoplasia. The variant co-segregated with the renal phenotype among the available tested family members and is consistent with the established loss-of-function spectrum of PBX1-related CAKUTHED. The available evidence is most consistent with a haploinsufficiency mechanism; however, NMD of the mutant allele was not directly demonstrated, and a potential dominant-negative contribution from an NMD-escaped truncated protein cannot be formally excluded. The transcriptomic and molecular dynamics findings should be regarded as exploratory and hypothesis-generating observations. Further allele-specific RNA analyses, NMD-inhibition experiments, direct protein detection, replicated simulations, and functional assays are required to distinguish between these potential mechanisms.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1958697 https://www.frontiersin.org/articles/10.3389/fgene.2026.1958697 2026-11-10T00:00:00Z Methods Brandon VongZhihan HuaIsabella LangaJack MonneySergey Nuzhdin A and C > T transitions. We then culture the EMS-treated gametophytes on solid media to immobilize them for streamlined screening and strain isolation. Whole-genome sequencing identified G > A and C > T substitutions consistent with EMS mutagenesis. In this workflow, agar-based culture is used as a practical tool for immobilizing, screening, and recovering mutagenized M. pyrifera gametophytes for downstream analysis.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1834720 https://www.frontiersin.org/articles/10.3389/fgene.2026.1834720 2026-11-09T00:00:00Z Original Research Laura Machado Lara CarvalhoAna Claudia Dantas MachadoGiovanna Cantini TolezanoDavi Mendes Campos FialhoAmanda ShinzatoPriscila de Oliveira CandidoBeatriz Cristina de OliveiraGustavo Dib DangoniMaisa Ganz Sanchez SennesJaqueline Yu Ting WangVictor Hugo Calegari de ToledoMarilia de Oliveira ScliarSofia de Oliveira FariasBianca Mie Sato KurashimaEsther Bordin LupionGabriel PiresLuciana Elena de Souza Fraga MachadoSilvia CostaSadegheh HaghshenasHaley McConkeyBekim SadikovicPhilip M. BoonePaulo Alberto OttoAngela M. Vianna-MorganteGuilherme YamamotoDébora Romeo BertolaCarla RosenbergAna Cristina Victorino Krepischi https://www.frontiersin.org/articles/10.3389/fgene.2026.1909079 https://www.frontiersin.org/articles/10.3389/fgene.2026.1909079 2026-11-09T00:00:00Z Original Research Wenjie FanHao LiuXiaoyi LvChen ChenCheng ChenYandan Xu https://www.frontiersin.org/articles/10.3389/fgene.2026.1918538 https://www.frontiersin.org/articles/10.3389/fgene.2026.1918538 2026-11-09T00:00:00Z Original Research Mang JingYun LiuShuMei MiaoTingyu XuTiantian LiYining Hu