Recombinant Human Limb region 1 protein homolog (LMBR1), partial

1. These include a patient with hypoplastic phalanges and absent hallux bilaterally with de novo deletion of 11.9 Mb on 7p21.1-22.1 spanning 63 genes including RAC1, another patient with severe Holt-Oram syndrome and a large de novo deletion 2.2 Mb on 12q24.13-24.21 spanning 20 genes including TBX3 and TBX5, and a third patient with acheiropodia who had a nullizygous deletion of 102 kb on 7q36.3 spanning LMBR1 PMID: 26749485
2. A novel ZRS mutation found in the Mexican population, 402C>T, suggests that a dosage effect exists for this mutation. PMID: 24777739
3. Data describe extensive variation in limb phenotype in a large family and report on a novel sequence variation NG_009240.1: g.106737G>T (traditional nomenclature: ZRS404G>T) in the ZRS within the LMBR1 gene. PMID: 24478176
4. Review of the literature and cases in a Chinese family confirm genetic homogeneity (duplication of ZRS wintin intron 5 of LMBR1) of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome. PMID: 23793141
5. report of a new point mutation within the ZRS in a family with digit malformations including triphalangeal thumb, pre-axial polydactyly and post-axial polydactyly; heterozygous C>A mutation at position 287 of the ZRS enhancer was detected in all affected subjects and is absent from four unaffected family members PMID: 22786669
6. A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb. PMID: 22495965
7. Effect on transcription factor binding of a novel ZRS point mutation (463T>G) in a Pakistani family with preaxial polydactyly and triphalangeal thumb. PMID: 20068592
8. mutation causes preaxial polydactyly PMID: 12032320
9. disruption is associated with preaxial polydactyly PMID: 12491086
10. C to T transition in LMBR1 results in the dysregulation of sonic hedgehog, which leads to the triphalangeal thumb-polysyndactyly syndrome found in this case PMID: 17300748
11. Intron 5 of LMBR1 was presumably subject to balancing selection during the evolution of modern human of various racial stocks. PMID: 18698406

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HGNC: 13243

OMIM: 135750

KEGG: hsa:64327

STRING: 9606.ENSP00000326604

UniGene: Hs.209989