Ask about this productRelated genes to: EHMT1 antibody
- Gene:
- EHMT1 NIH gene
- Name:
- euchromatic histone lysine methyltransferase 1
- Previous symbol:
- EHMT1-IT1
- Synonyms:
- Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D, FLJ40292
- Chromosome:
- 9q34.3
- Locus Type:
- gene with protein product
- Date approved:
- 2004-06-01
- Date modifiied:
- 2017-08-16
Related products to: EHMT1 antibody
Related articles to: EHMT1 antibody
- HT-2 toxin, a common grain contaminant, has been shown to impair mammalian reproductive function, but its specific effects on the epigenetic modifications of oocytes have not been systematically elucidated. This study aimed to investigate the impact of HT-2 toxin exposure on epigenetic modifications in mouse oocytes and the potential intervention of melatonin. The results revealed that HT-2 exposure downregulated the expression of histone methyltransferases (Suv39h2, Ehmt1, Ezh1, Ezh2) and the DNA demethylase Tet3, leading to reduced levels of repressive histone modifications (H3K9me3, H3K27me3) and abnormally elevated DNA methylation, which in turn compromised oocyte quality and significantly reduced the blastocyst formation rate after fertilization. The addition of melatonin effectively reversed the dysregulation of these epigenetics-related genes, restored histone modification and DNA methylation levels, and significantly improved embryonic developmental potential. This study reveals a novel mechanism by which melatonin mitigates reproductive toxicity through multi-target correction of HT-2-induced epigenetic errors, providing a potential strategy for preventing and addressing reproductive health issues caused by environmental toxins. - Source: PubMed
Publication date: 2026/04/20
Wu FeiQu HuiminJin JunxueZhang Ruimen - Syndrome-specific International Classification of Diseases, 10th Revision (ICD-10) codes have the potential to improve identification of patients for precision therapies, clinical trials, and research, yet their real-world uptake is not well characterized. We evaluated the utilization of syndrome-specific ICD-10 codes at a large academic medical center among patients with pathogenic or likely pathogenic variants in 10 monogenic epilepsy genes with established codes (CDKL5, EHMT1, KCNQ2, MECP2, MED13L, SCN1A, SHANK3, SLC13A5, SLC2A1, SYNGAP1). Patients were identified from an institutional genetic testing database and were included if they had at least one clinical encounter after code implementation or genetic diagnosis. Variants of uncertain significance were manually curated, and Rett and Dravet phenotypes were reviewed for accuracy. Of 83 patients with qualifying variants, 39 met inclusion criteria. Only 56.4% (22/39) were ever assigned a syndrome-specific ICD-10 code, which appeared in 31.1% of encounters and accounted for 14.5% of all documented codes. Uptake varied by syndrome, provider specialty, and encounter type and increased over time. In the Dravet syndrome subgroup (n = 23), generic epilepsy codes were documented more than twice as often as the Dravet-specific code (G40.83). When G40.83 was documented, other epilepsy codes were used less frequently, suggesting it may be treated as a substitute for broader epilepsy codes. These findings demonstrate inconsistent and limited adoption of syndrome-specific ICD-10 codes, highlighting the need for improved coding support and integration of structured genetic data within the electronic health record. - Source: PubMed
Publication date: 2026/03/26
Moura Coelho da Silva ÉmileBrünger TobiasTaylor GarySinha MousumiMerket AlisonCherukara AnuBajaj SunanjayClark JessicaMontanucci LudovicaHuth Emily AFauteux MarianaLhatoo Samden DBoßelmann Christian MLeu CostinTai Rahil ALal Dennis - Fanconi anemia (FA; OMIM: 227650) is a rare genetic disorder characterized by bone marrow failure, congenital anomalies, and cancer predisposition. While FANCA mutations account for most FA cases, phenotypic overlap with other disorders complicates diagnosis. This study analyzes molecular diagnostic pathways for FANCA-related FA and establishes a hereditary differential diagnosis for ectrodactyly. A Chinese FA family clinical phenotype was collected. The proband and father underwent whole-genome sequencing. Copy number variations (CNVs) in FANCA were assessed by genomic qPCR. Functional characterization of the EHMT1 variant included minigene splicing assays, RT-qPCR and Western blotting on peripheral blood samples. The proband showed pancytopenia and bone marrow hypoplasia, suggesting aplastic anemia. Sequencing analysis identified two FANCA mutations, NM_000135.4: c.154C>T and NC_000016.9: g.89865477_89895212del, which caused partial protein deletion. Subsequent pedigree analysis revealed that the affected individuals of the proband's paternal lineage, who exhibited ectrodactyly, were heterozygous for the EHMT1 c.2382 + 1750G>A variant (NM 024757.5) and showed significantly reduced EHMT1 mRNA expression, demonstrating complete genotype-phenotype co-segregation. Furthermore, Western blot revealed reduced H3K9me2 and decreased intensity of a ∼100 kDa EHMT1-reactive band in the proband's father. The newly identified g.89865477_89895212del mutation enriches the FANCA gene mutant spectrum. Additionally, the EHMT1 c.2382 + 1750G>A variant co-segregates with ectrodactyly and is accompanied by significantly reduced EHMT1 mRNA expression. - Source: PubMed
Publication date: 2026/02/14
Zhang Jian-HuiXu Zi-YanYu Hong-PingWang Ruo-LiZhu JuanGeng Zhen-BoChen LiRuan Dan-DanHuang Fang-MengGao Mei-ZhuLi Yun-FeiZhang Xi-KuiZhang LiFang Zhu-TingLiao Li-ShengZheng Xiao-LingHu BinLuo Jie-Wei - Long QT syndrome (LQTS) is a rare and potentially life-threatening arrhythmia characterized by delayed repolarization on electrocardiogram (EKG) evaluation. Although LQTS is primarily associated with defects in ion channels, in approximately 20% of cases the genetic cause remains unknown. Kleefstra syndrome (KS), a rare neurodevelopmental disorder caused by alterations in the gene, has been associated with various cardiac abnormalities, including structural defects and arrhythmias. Here we report the second case of LQT in a patient with KS, strengthening the association between these two conditions. Although rare in KS, LQT may represent a potentially life-threatening condition that requires careful monitoring. Further, we present a detailed clinical case and a literature review on cardiac rhythm abnormalities in KS, highlighting the importance of EKG monitoring in these patients. Further studies are needed to clarify the link between and cardiac arrhythmias and to establish the potential role of in the epigenetic modulation of cardiac pacemakers. These insights may have important implications in management of patients with KS and other Mendelian disorders of epigenetic machinery (MDEMs). - Source: PubMed
Publication date: 2026/02/07
Marchetti Giulia BrunaGaudioso FedericaMeossi CamillaMura MichelaAgostoni CarloGervasini CristinaMassa ValentinaPezzoli LauraIascone MariaMilani Donatella - The early developmental profile of Kleefstra syndrome remains undercharacterized. To address this gap, this study investigated a large clinical cohort of patients with Kleefstra syndrome, characterizing age of achievement of infant/toddler developmental milestones and quantifying language and visual motor developmental quotients (DQs) using the Capute Scales developmental screening tool. We conducted a retrospective chart review on individuals with molecularly confirmed Kleefstra syndrome. We reported age of achievement of motor and language milestones. In a subset of this cohort, we evaluated DQs for language and visual motor skills based on the Capute Scales. Among 100 individuals (43 males, 57 females; median age 9 years), rolling occurred at a median of 6 months, sitting at 10 months, independent walking at 1.96 years, and first words at 24 months. Capute Scales testing (n = 24) showed median DQs as follows: visual motor skills (53, IQR = 42-71), overall language (56, IQR = 42-67), expressive language (52, IQR = 35-60), and receptive language (50, IQR = 42-61). This work quantifies the early developmental profile of Kleefstra syndrome and suggests that developmental delay can be significant from an early age, making early initiation of services such as physical therapy, occupational therapy, and speech therapy crucial to ensuring optimal skills development. This cross-sectional analysis highlights the need for incorporating longitudinal developmental assessments into the clinical care of patients with Kleefstra syndrome-particularly during infancy and early childhood-to ensure that appropriate educational supports are in place. - Source: PubMed
Publication date: 2026/02/06
Yue Shanna LPillai Rajapillai L IFrazier ZoëOsika HaileyQuinn MegO'Toole JillianHeslin BrynnZhang BoDies Kira APais LynnO'Donnell-Luria AnneHorlbeck Max AKossowsky JoeLipton JonathanSrivastava Siddharth