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| Limb disorders v6.6 | BTRC |
Eleanor Williams edited their review of gene: BTRC: Added comment: PMID: 35908152 - Qui et al 2022 - using trio clinical exome sequencing, a 120 kb microduplication containing only BTRC were identified in a Chinese family affected with SHFM3. The duplication co-segregated with SHFM phenotypes in the family. Transcription levels of BTRC mRNA in lymphocytes of the proband was significantly higher than in the healthy control. PMID: 36928426 Cova et al 2023 - show that the Lbx1/Fgf8 locus consists of two separate, but interacting, regulatory domains. By re-engineering a human SHFM3-associated duplication in mice they observed ectopic interactions between the Fgf8 apical ectodermal ridge (AER) enhancers and two other genes in the locus, Lbx1 and Btrc. The same ectopic interactions were present in fibroblasts from a SHFM3 affected individual with duplication. In mice with the duplication a limb malformation was not observed. They also report a case of SHFM3 malformation associated with an inversion encompassing the DPDC, POLL and FBXW4 genes which when re-engineered in mice results in increased expression of genes, Lbx1 and Btrc, in an Fgf8-like pattern in the apical ectodermal ridge. Mice with the inversion were observed to have a digit phenotype. In conclusion, point mutations in BTRC in association with SHFM3 have not been reported. It appears that changed expression of gene BTRC is related to the phenotype, but that expression levels can be impacted by both duplication of the region itself and inversion of other nearby regions, likely by disruption of regulatory domains.; Changed publications to: 35908152, 36928426 |
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| Limb disorders v6.6 | FBXW4 | Eleanor Williams Phenotypes for gene: FBXW4 were changed from Split-hand/foot malformation 3 syndrome, OMIM:246560; split hand-foot malformation 3, MONDO:0009525 to Split-hand/foot malformation 3, gene duplication syndrome, OMIM:246560; split hand-foot malformation 3, MONDO:0009525 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v6.5 | FBXW4 | Eleanor Williams Publications for gene: FBXW4 were set to 19584065; 18067070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v6.4 | FBXW4 | Eleanor Williams Entity copied from Skeletal dysplasia v7.12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v6.4 | FBXW4 |
Eleanor Williams gene: FBXW4 was added gene: FBXW4 was added to Limb disorders. Sources: Expert list,Emory Genetics Laboratory,Expert Review Amber,Illumina TruGenome Clinical Sequencing Services,UKGTN Mode of inheritance for gene: FBXW4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXW4 were set to 19584065; 18067070 Phenotypes for gene: FBXW4 were set to Split-hand/foot malformation 3 syndrome, OMIM:246560; split hand-foot malformation 3, MONDO:0009525 Penetrance for gene: FBXW4 were set to Complete |
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