KEGG   VARIANT: 633v1
Entry
633v1                      Variant                                 
Name
BGN mutation
Type
Loss of function
Gene
BGN  biglycan [KO:K08118]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 301870
Network
nt06539  Cytoskeleton in muscle cells
Disease
H02187  Spondyloepimetaphyseal dysplasia
H02720  Meester-Loeys syndrome
Reference
  Authors
Meester JA, Vandeweyer G, Pintelon I, Lammens M, Van Hoorick L, De Belder S, Waitzman K, Young L, Markham LW, Vogt J, Richer J, Beauchesne LM, Unger S, Superti-Furga A, Prsa M, Dhillon R, Reyniers E, Dietz HC, Wuyts W, Mortier G, Verstraeten A, Van Laer L, Loeys BL
  Title
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
  Journal
Genet Med 19:386-395 (2017)
DOI:10.1038/gim.2016.126
Reference
  Authors
Cho SY, Bae JS, Kim NKD, Forzano F, Girisha KM, Baldo C, Faravelli F, Cho TJ, Kim D, Lee KY, Ikegawa S, Shim JS, Ko AR, Miyake N, Nishimura G, Superti-Furga A, Spranger J, Kim OH, Park WY, Jin DK
  Title
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
  Journal
Am J Hum Genet 98:1243-1248 (2016)
DOI:10.1016/j.ajhg.2016.04.004
Reference
  Authors
Meester JAN, Hebert A, Bastiaansen M, Rabaut L, Bastianen J, Boeckx N, Ashcroft K, Atwal PS, Benichou A, Billon C, Blankensteijn JD, Brennan P, Bucks SA, Campbell IM, Conrad S, Curtis SL, Dasouki M, Dent CL, Eden J, Goel H, Hartill V, Houweling AC, Isidor B, Jackson N, Koopman P, Korpioja A, Kraatari-Tiri M, Kuulavainen L, Lee K, Low KJ, Lu AC, McManus ML, Oakley SP, Oliver J, Organ NM, Overwater E, Revencu N, Trainer AH, Trivedi B, Turner CLS, Whittington R, Zankl A, Zentner D, Van Laer L, Verstraeten A, Loeys BL
  Title
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
  Journal
NPJ Genom Med 9:22 (2024)
DOI:10.1038/s41525-024-00413-z
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