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Page 1
Molecular genetics in classic Ehlers-Danlos syndrome.
Malfait F, De Paepe A. Malfait F, et al. Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):17-23. doi: 10.1002/ajmg.c.30070. Am J Med Genet C Semin Med Genet. 2005. PMID: 16278879 Review.
The relatively low mutation detection rate in the COL5A1/A2 genes suggests genetic heterogeneity. Indeed rarely mutations in type I collagen have been identified in patients with classic EDS. Mutations in the gene for tenascin-X have been implicated in an aut …
The relatively low mutation detection rate in the COL5A1/A2 genes suggests genetic heterogeneity. Indeed rarely mutations in type I c …
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.
Colombi M, Dordoni C, Cinquina V, Venturini M, Ritelli M. Colombi M, et al. Eur J Med Genet. 2018 Jan;61(1):17-20. doi: 10.1016/j.ejmg.2017.10.005. Epub 2017 Oct 9. Eur J Med Genet. 2018. PMID: 29024828
The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility (gJHM) and/or at least three minor criteria t …
The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin …
Diversity in heritable disorders of connective tissue at a single center.
Hsu RH, Chien YH, Hwu WL, Lee NC. Hsu RH, et al. Connect Tissue Res. 2021 Sep;62(5):580-585. doi: 10.1080/03008207.2020.1816994. Epub 2020 Sep 8. Connect Tissue Res. 2021. PMID: 32862725
Although next-generation sequencing (NGS) technology can be used to analyze many genes at a time, precisely diagnosing HDCT is still challenging because of the overlapping phenotypes and genotypes. METHODS: A 67-gene NGS targeted panel or whole-exome sequencing was …
Although next-generation sequencing (NGS) technology can be used to analyze many genes at a time, precisely diagnosing HDCT is still challen …
A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.
Duong J, Rideout A, MacKay S, Beis J, Parkash S, Schwarze U, Horne SG, Vandersteen A. Duong J, et al. Eur J Med Genet. 2020 Feb;63(2):103730. doi: 10.1016/j.ejmg.2019.103730. Epub 2019 Jul 16. Eur J Med Genet. 2020. PMID: 31323331
Most patients (>90%) with Classical Ehlers-Danlos syndrome (cEDS) have a mutation in the COL5A1 or COL5A2 genes encoding type V procollagen. A small number of patients with the p.Arg312Cys mutation in COL1A1 have been reported with overlapping features of …
Most patients (>90%) with Classical Ehlers-Danlos syndrome (cEDS) have a mutation in the COL5A1 or COL5A2 genes encoding ty …
Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.
van Dijk FS, Mancini GMS, Maugeri A, Cobben JM. van Dijk FS, et al. Eur J Med Genet. 2017 Oct;60(10):536-540. doi: 10.1016/j.ejmg.2017.07.011. Epub 2017 Jul 27. Eur J Med Genet. 2017. PMID: 28757364
Using the past criteria for kEDS there was considerable overlap with the clinical diagnostic criteria for EDS classical type. In the patients reported here without (kypho) scoliosis this has delayed the diagnosis, which is unfortunate as the diagnosis of kEDS …
Using the past criteria for kEDS there was considerable overlap with the clinical diagnostic criteria for EDS classical …