Solomon L, Jimenez RB, Reiner L. Spondylothoracic dysostosis: report of two cases and review of the literature. Arch Pathol Lab Med. 1978;102:201–5.
Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S, et al. Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: negative mutation analysis of DLL3, MESP2, HES7, and LFNG. Am J Med Genet A. 2010;152A:1378–82. https://doi.org/10.1002/ajmg.a.33471
Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SL, et al. Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet. 2004. https://doi.org/10.1086/421053
Article PubMed PubMed Central Google Scholar
Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, Fatkin D, et al. Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet. 2006;78:28–37. https://doi.org/10.1086/498879
Article CAS PubMed Google Scholar
Sparrow DB, Guillen-Navarro E, Fatkin D, Dunwoodie SL. Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. Hum Mol Genet. 2008;17:3761–6. https://doi.org/10.1093/hmg/ddn272
Article CAS PubMed Google Scholar
Umair M, Younus M, Shafiq S, Nayab A, Alfadhel M. Clinical genetics of spondylocostal dysostosis: a mini review. Front Genet. 2022;13:996364. https://doi.org/10.3389/fgene.2022.996364
Article CAS PubMed PubMed Central Google Scholar
Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, et al. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med. 2015;372:341–50. https://doi.org/10.1056/NEJMoa1406829
Article CAS PubMed PubMed Central Google Scholar
McInerney-Leo AM, Sparrow DB, Harris JE, Gardiner BB, Marshall MS, O’Reilly VC, et al. Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. Hum Mol Genet. 2015;24:1234–42. https://doi.org/10.1093/hmg/ddu534
Article CAS PubMed Google Scholar
Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, et al. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet. 2000;24:438–41. https://doi.org/10.1038/74307
Article CAS PubMed Google Scholar
Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S. Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. J Med Genet. 2003;40:333–9. https://doi.org/10.1136/jmg.40.5.333
Article CAS PubMed PubMed Central Google Scholar
Zhang S, Qiao Y, Wang Z, Zhuang J, Sun Y, Shang X, et al. Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia. Clin Chim Acta. 2021;516:157–68. https://doi.org/10.1016/j.cca.2021.01.025
Article CAS PubMed Google Scholar
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248–9. https://doi.org/10.1038/nmeth0410-248
Article CAS PubMed PubMed Central Google Scholar
Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7:575–6. https://doi.org/10.1038/nmeth0810-575
Article CAS PubMed Google Scholar
Shangguan H, Su C, Ouyang Q, Cao B, Wang J, Gong C, et al. Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature. Orphanet J Rare Dis. 2019;14:255. https://doi.org/10.1186/s13023-019-1219-x
Article PubMed PubMed Central Google Scholar
Rodrigues CH, Pires DE, Ascher DB. DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability. Nucleic Acids Res. 2018;46:W350–5. https://doi.org/10.1093/nar/gky300
Article CAS PubMed PubMed Central Google Scholar
Mirdita M, Schütze K, Moriwaki Y, Heo L, Ovchinnikov S, Steinegger M. ColabFold: making protein folding accessible to all. Nat Methods. 2022;19:679–82. https://doi.org/10.1038/s41592-022-01488-1
Article CAS PubMed PubMed Central Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med Off J Am Coll Med Genet. 2015;17:405–24. https://doi.org/10.1038/gim.2015.30
Rampal R, Li AS, Moloney DJ, Georgiou SA, Luther KB, Nita-Lazar A, et al. Lunatic fringe, manic fringe, and radical fringe recognize similar specificity determinants in O-fucosylated epidermal growth factor-like repeats. J Biol Chem. 2005;280:42454–63. https://doi.org/10.1074/jbc.M509552200
Article CAS PubMed Google Scholar
Otomo N, Mizumoto S, Lu HF, Takeda K, Campos-Xavier B, Mittaz-Crettol L, et al. Identification of novel LFNG mutations in spondylocostal dysostosis. J Hum Genet. 2019;64:261–4. https://doi.org/10.1038/s10038-018-0548-2
Article CAS PubMed Google Scholar
Okubo Y, Sugawara T, Abe-Koduka N, Kanno J, Kimura A, Saga Y. Lfng regulates the synchronized oscillation of the mouse segmentation clock via trans-repression of Notch signalling. Nat Commun. 2012;3:1141. https://doi.org/10.1038/ncomms2133
Article CAS PubMed Google Scholar
Bochter MS, Servello D, Kakuda S, D’Amico R, Ebetino MF, Haltiwanger RS, et al. Lfng and Dll3 cooperate to modulate protein interactions in cis and coordinate oscillatory Notch pathway activation in the segmentation clock. Dev Biol. 2022;487:42–56. https://doi.org/10.1016/j.ydbio.2022.04.004
Article CAS PubMed PubMed Central Google Scholar
Matsumoto K, Kumar V, Varshney S, Nairn AV, Ito A, Pennarubia F, et al. Fringe GlcNAc-transferases differentially extend O-fucose on endogenous NOTCH1 in mouse activated T cells. J Biol Chem. 2022;298:102064. https://doi.org/10.1016/j.jbc.2022.102064
Article CAS PubMed PubMed Central Google Scholar
Xu K, Nieuwenhuis E, Cohen BL, Wang W, Egan SE. Lunatic fringe-mediated Notch signaling is required for lung alveogenesis. Am J Physiol Lung Cell Mol Physiol. 2010;298:L45–56. https://doi.org/10.1152/ajplung.90550.2008
留言 (0)