Ask about this productRelated genes to: HOXD12 antibody
- Gene:
- HOXD12 NIH gene
- Name:
- homeobox D12
- Previous symbol:
- HOX4H
- Synonyms:
- -
- Chromosome:
- 2q31.1
- Locus Type:
- gene with protein product
- Date approved:
- 1991-05-08
- Date modifiied:
- 2015-08-25
Related products to: HOXD12 antibody
Related articles to: HOXD12 antibody
- Synpolydactyly is a rare limb deformity characterized by a unique combination of syndactyly and polydactyly. Synpolydactyly has an autosomal dominant mode of inheritance often with reduced penetrance. Variants in HOXD13, FBLN1, GLI3, and TTC30B have been reported to underlie the etiology of synpolydactyly. Here, we describe a three-generational Pakistani family segregating a form of synpolydactyly which has not previously been reported that includes, severe hand involvement characterized by bilateral syndactyly of the third, fourth, and fifth fingers, accompanied by preaxial polydactyly in all affected family members. Synpolydactyly of the feet was absent and only one family member presented with unilateral syndactyly of the third, fourth, and fifth toes. Exome sequencing of DNA samples obtained from members of the family led to the identification of a missense variant in HOXD12 [NM_021193.4:c.512A>G, p.(Asn171Ser)] that segregates with the synpolydactyly. HOXD12 is expressed in the posterior half of developing limb and is involved in bone development by regulating digit formation and patterning. It has also been implicated in limb deformities in mice and humans. Although HOXD12 has been reported to be involved in the etiology of clubfoot, this is the first report of its involvement in etiology of synpolydactyly. - Source: PubMed
Publication date: 2026/03/03
Khan HammalBilal MuhammadBharadwaj ThashiAcharya AnushreeSchrauwen IsabelleAhmad WasimLeal Suzanne M - Prenatal exposure to glucocorticoids is linked to long-term health risks in offspring, but the role of maternal gut microbiota in mediating these effects remains unclear. Here, we demonstrate that prenatal prednisone therapy (PPT) in humans and prenatal prednisone exposure (PPE) in rats result in sex-specific long bone dysplasia in offspring, including reduced peak bone mass (PBM) and heightened osteoporosis risk in female offspring. Multi-omics profiling and fecal microbiota transplantation show that PPE alters maternal gut microbiota composition and depletes the microbial metabolite daidzein (DAI). DAI deficiency suppresses expression, impairs osteogenesis, and leads to PBM decline in female offspring. In bone marrow-derived mesenchymal stem cells from PPE female offspring, DAI promoted expression and osteogenic differentiation. Notably, DAI supplementation restored H3K9ac levels, enhanced expression, and promoted osteogenic differentiation through the ERβ/KAT6A pathway. Furthermore, maternal DAI supplementation during pregnancy prevented osteoporosis susceptibility in PPE female offspring and alleviated functional abnormalities in multiple organs, including the liver, hippocampus, ovary, and adrenal gland. In conclusion, PPE induces multiorgan dysplasia and increases disease predisposition (e.g., osteoporosis) in female offspring by disrupting maternal gut microbiota and depleting DAI. Maternal DAI supplementation provides a promising preventive strategy to counteract these adverse outcomes. - Source: PubMed
Publication date: 2025/04/28
Ma ChiHe HangyuanWang KunpengGuo JuanjuanLiu LiangChen YutingLi BinXiao HaoLi XufengLu XiaoqianWang TingtingWen YinxianWang HuiChen Liaobin - Congenital limb anomalies remain without an etiological diagnosis in up to 65% of patients. To help close this gap, we describe the genetic diagnostic outcomes of a large cohort. Patients whose primary indication for genetic consultation was a limb anomaly were included from 2014 to 2024. Demographic, investigation, and diagnostic information were extracted, described, and compared. One hundred and thirty-two patients were included in the final cohort, with an average molecular diagnostic yield of 36%. The most common conditions were polydactyly (24%) and radial anomalies (19%). Fifty percent had syndromic features. Seven (5%) patients underwent chromosomal microarray (CMA) only, 81 (63%) CMA and a gene panel, and 43 (32%) subsequently underwent exome sequencing. Exome yielded a diagnosis in 11 (25%). We identified 25 novel mutations in known disease-causing genes, including TBX3 (3 cases) and expanded the phenotype of several loci, including BMP4 and HNRNPH2. Finally, we identified two new limb anomalies candidate loci, for which previously published mouse studies from other groups suggested roles in limb development: HOXA11 and a 2q31.1 deletion involving HOXD10 and HOXD12. This represents the second largest described limb anomalies cohort. Exome-wide sequencing associated with literature and database searches for mouse data represents an opportunity to identify novel etiologies in this group of disorders, including two candidate loci we identified. - Source: PubMed
Publication date: 2025/08/21
Mokhtari AkramCharbonneau JadeMiranda ValancyJizi KhadijéDelrue Marie-AngeEgerszegi PatriciaThiffault IsabelleCampeau Philippe M - Synpolydactyly (SPD) is mainly caused by mutations of polyalanine expansion (PAE) in the transcription factor gene HOXD13 and the involved cell types and signal pathway are still not clear possible pathways and single-cell expression characteristics of limb bud in HOXD13 PAE mice was analyzed in this study. - Source: PubMed
Publication date: 2024/10/29
Chen XiuminShen XiaofangYang TaoCao YixuanZhao Xiuli - Oligodendroglioma, IDH-mutant and 1p/19q-codeleted has highly variable outcomes that are strongly influenced by patient age. The distribution of oligodendroglioma age is non-Gaussian and reportedly bimodal, which motivated our investigation of age-associated molecular alterations that may drive poorer outcomes. We found that elevated HOXD12 expression was associated with both older patient age and shorter survival in the TCGA (FDR < 0.01, FDR = 1e-5) and the CGGA (p = 0.03, p < 1e-3). HOXD12 gene body hypermethylation was associated with older age, higher WHO grade, and shorter survival in the TCGA (p < 1e-6, p < 0.001, p < 1e-3) and with older age and higher WHO grade in Capper et al. (p < 0.002, p = 0.014). In the TCGA, HOXD12 gene body hypermethylation and elevated expression were independently prognostic of NOTCH1 and PIK3CA mutations, loss of 15q, MYC activation, and standard histopathological features. Single-nucleus RNA and ATAC sequencing data showed that HOXD12 activity was elevated in neoplastic tissue, particularly within cycling and OPC-like cells, and was associated with a stem-like phenotype. A pan-HOX DNA methylation analysis revealed an age and survival-associated HOX-high signature that was tightly associated with HOXD12 gene body methylation. Overall, HOXD12 expression and gene body hypermethylation were associated with an older, atypically aggressive subtype of oligodendroglioma. - Source: PubMed
Publication date: 2024/09/11
Nuechterlein NicholasCimino SadieShelbourn AllisonHa VinnyArora SonaliRajan SharikaShapiro Linda GHolland Eric CAldape KennethMcGranahan TresaGilbert Mark RCimino Patrick J