https://www.frontiersin.org/journals/genetics/sections/neurogenomics RSS Feed for Neurogenomics section in the Frontiers in Genetics journal | New and Recent Articles en-us Frontiers Feed Generator,version:1 2026-05-13T19:50:45.832+00:00 60 https://www.frontiersin.org/articles/10.3389/fgene.2026.1795752 https://www.frontiersin.org/articles/10.3389/fgene.2026.1795752 2026-04-24T00:00:00Z Original Research Ziheng HuangWei KongShuaiqun Wang https://www.frontiersin.org/articles/10.3389/fgene.2026.1799301 https://www.frontiersin.org/articles/10.3389/fgene.2026.1799301 2026-04-20T00:00:00Z Original Research Limin HuJunjie Chen https://www.frontiersin.org/articles/10.3389/fgene.2026.1780231 https://www.frontiersin.org/articles/10.3389/fgene.2026.1780231 2026-03-19T00:00:00Z Brief Research Report Robbie ClarkePayton VillersChloe BillsMichaela RiceMadison HigginsChan LeePrabir PatraPeter H.U. LeeAbhay MoghekarJoon W. Shim https://www.frontiersin.org/articles/10.3389/fgene.2026.1761205 https://www.frontiersin.org/articles/10.3389/fgene.2026.1761205 2026-02-25T00:00:00Z Original Research Lijia YuWeiqing JiangLi CaoZhi GengJingjiong Chen https://www.frontiersin.org/articles/10.3389/fgene.2026.1746234 https://www.frontiersin.org/articles/10.3389/fgene.2026.1746234 2026-02-18T00:00:00Z Original Research Xiao-Ling Li A p. (Tyr1508Asn). This variant was detected in five affected family members and one asymptomatic carrier. In accordance with the ACMG/AMP guidelines (2015) and ClinGen Epilepsy Sodium Channel Expert Panel specifications (Version 2.0.0), the variant was classified as a Variant of Uncertain Significance (VUS), given its absence from population databases (1000 Genomes, gnomAD, ESP6500) and clinical variant repositories (ClinVar, HGMD), as well as lack of prior literature reports. Co-segregation analysis confirmed consistent association between the variant and GEFS + spectrum phenotypes, and in silico predictions (PolyPhen-2, SIFT, VariantTaster) supported a deleterious effect on protein function. The inheritance pattern was consistent with autosomal dominant inheritance with incomplete penetrance. Structural analysis localized the variant to the intracellular D3-D4 linker of Nav1.1, a domain critical for fast channel inactivation, providing a plausible mechanistic basis for altered neuronal excitability. Our findings expand the spectrum of SCN1A variants associated with GEFS+ and highlight the importance of comprehensive pedigree analysis in deciphering the genetic basis of heterogeneous epilepsy syndromes. These data also provide clinically actionable insights for genetic counseling and precision medicine in affected families once the variant is proven to be pathogenic.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1769172 https://www.frontiersin.org/articles/10.3389/fgene.2026.1769172 2026-02-12T00:00:00Z Case Report Jing ZhongTang YangBo WuShuai Jiang https://www.frontiersin.org/articles/10.3389/fgene.2026.1766081 https://www.frontiersin.org/articles/10.3389/fgene.2026.1766081 2026-02-05T00:00:00Z Original Research Qi PengSiping LiFen LvXiaomei ZengQingqiu ChengBaimao ZhongXiaomei Lu T (G6PD Canton) and NM_001042351.3:c.1388G>A (G6PD Kaiping) were the most prevalent across all groups.ConclusionThis population-based genetic analysis provides preliminary evidence that G6PD deficiency may be a underrecognized genetic risk factor for rare neurological disorders in Chinese children. The findings suggest a potential maternal genetic contribution and indicate that the phenotypic spectrum of G6PD deficiency may extend beyond hematological manifestations to include neurodevelopmental vulnerability. Important limitations include the lack of functional validation and the use of a clinical control group. Further prospective studies incorporating G6PD enzyme activity assessment and functional investigations are warranted to elucidate the underlying mechanisms.]]> https://www.frontiersin.org/articles/10.3389/fgene.2026.1632163 https://www.frontiersin.org/articles/10.3389/fgene.2026.1632163 2026-01-28T00:00:00Z Original Research Zheng QibinLin LinChen YibiaoLin PengWang HuiqingSu DaoqingYu Lianghong https://www.frontiersin.org/articles/10.3389/fgene.2025.1750113 https://www.frontiersin.org/articles/10.3389/fgene.2025.1750113 2026-01-12T00:00:00Z Opinion Camilla Teixeira Pinheiro GusmãoGiselli ScainiEverton Ferreira de SouzaRafael Antônio Vicente LacerdaMatheus de Almeida CostaRaja MehannaJoão QuevedoHoward Lopes Ribeiro Junior https://www.frontiersin.org/articles/10.3389/fgene.2025.1769021 https://www.frontiersin.org/articles/10.3389/fgene.2025.1769021 2026-01-09T00:00:00Z Correction Mingkai YangYanfang XiaoChanjuan ChenZhou ChuGuohong Hu https://www.frontiersin.org/articles/10.3389/fgene.2025.1674158 https://www.frontiersin.org/articles/10.3389/fgene.2025.1674158 2025-12-11T00:00:00Z Case Report Mingkai YangYanfang XiaoChanjuan ChenZhou ChuGuohong Hu G, p. Ser365*) and a 1.22-Mb 15q11.2 microdeletion (BP1-BP2) inherited from the asymptomatic father, establishing a dual diagnosis. The PPI network revealed no direct or high-confidence (>0.4) interactions between ASXL3 and the 15q11.2 BP1-BP2 microdeletion-encoded proteins CYFIP1, NIPA1, NIPA2 or TUBGCP5, indicating convergence at the pathway rather than the complex level.ConclusionThe 15q11.2 BP1-BP2 microdeletion acts as a genetic modifier that may amplify the phenotypic expression caused by the core mutation in the ASXL3 gene. Haploinsufficiency of CYFIP1, NIPA1, NIPA2, and TUBGCP5 increases neurodevelopmental susceptibility, while the de novo truncating mutation in ASXL3 drives severe epigenetic dysregulation. Together, they precipitate the profound phenotype observed here. This case suggests that multilocus pathogenic variation can generate a blended, severe phenotype and underscores the need to consider polygenic burden plus gene–environment interactions in complex NDD. We proposed a “core mutation - gene regulator - environment” synergy hypothesis model, which is of significant guidance value for genetic counseling and personalized clinical management.]]> https://www.frontiersin.org/articles/10.3389/fgene.2025.1719182 https://www.frontiersin.org/articles/10.3389/fgene.2025.1719182 2025-12-08T00:00:00Z Case Report Limin LiXinghua LuanKai LiuChengzhe Wang https://www.frontiersin.org/articles/10.3389/fgene.2025.1690693 https://www.frontiersin.org/articles/10.3389/fgene.2025.1690693 2025-11-20T00:00:00Z Original Research Qiang ZhangQi YangXunzhao ZhouZailong QinJingsi Luo G (p.Lys1592Glu), c.4452 + 5G>C, c.3764A>G (p.His1255Arg), c.3591–2A>G, and c.6439C>T (p.Gln2147*). These alterations impair gene function through mechanisms including amino acid substitution, disruption of mRNA splicing, or premature protein truncation. All variants were classified as pathogenic or likely pathogenic per ACMG/AMP criteria. Literature analysis reveals that the predominant clinical manifestations in the Chinese patients encompassed neurodevelopmental impairment, accompanied by motor delay, growth retardation, and microcephaly. Strikingly, archetypal craniofacial dysmorphisms, such as arched eyebrows, long eyelashes, downslanting palpebral fissures, beaked nose, as well as significant skeletal abnormalities were absent, suggesting EP300 variants may present with a broader and more variable phenotypic spectrum than previously recognized.ConclusionThis study reports five novel pathogenic EP300 variants, expanding the variant repertoire of RSTS2 and providing an important basis for clinical diagnosis and genetic counseling.]]> https://www.frontiersin.org/articles/10.3389/fgene.2025.1699311 https://www.frontiersin.org/articles/10.3389/fgene.2025.1699311 2025-11-06T00:00:00Z Case Report Li LiJie ZhangXiaoyan ShiYaqing HuangXingzhi ChangLiya Zhang https://www.frontiersin.org/articles/10.3389/fgene.2025.1702803 https://www.frontiersin.org/articles/10.3389/fgene.2025.1702803 2025-10-14T00:00:00Z Case Report Qisheng HuFeng ZhuWanfen WangYihang XuHaiyan RenYanni ZhengYiqing JiangShaofa Ke https://www.frontiersin.org/articles/10.3389/fgene.2025.1676565 https://www.frontiersin.org/articles/10.3389/fgene.2025.1676565 2025-10-08T00:00:00Z Original Research Xin WangZelin WuShaoli WeiXinran ZhaoJuan LinFang ZhaoXiaolei Liu https://www.frontiersin.org/articles/10.3389/fgene.2025.1629897 https://www.frontiersin.org/articles/10.3389/fgene.2025.1629897 2025-08-29T00:00:00Z Original Research Marcus H. F. NgJimmy W. Y. LamZoe Y. K. ChoiHui-Fang LiuPhilip W. L. HoBenson W. M. LauBenjamin K. Yee https://www.frontiersin.org/articles/10.3389/fgene.2025.1613022 https://www.frontiersin.org/articles/10.3389/fgene.2025.1613022 2025-08-14T00:00:00Z Case Report Salvatore SavastaFabiola SerraLucrezia GalimbertiFrancesco Fabrizio ComisiMarcello CossuAlessandro VannelliMaddalena MasalaSara TancaStefania Murru https://www.frontiersin.org/articles/10.3389/fgene.2025.1650259 https://www.frontiersin.org/articles/10.3389/fgene.2025.1650259 2025-07-30T00:00:00Z Mini Review Kathryn StepThiago Peixoto LealWalaa A. KamelEmily WaldoSoraya BardienIgnacio F. Mata https://www.frontiersin.org/articles/10.3389/fgene.2025.1622185 https://www.frontiersin.org/articles/10.3389/fgene.2025.1622185 2025-07-04T00:00:00Z Case Report Anna BryzikDawid LaryszPatrycja LaryszJulia Izabela KarpierzJustyna Paprocka