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A novel mutation in the MSX2 homeobox gene of a family with foramina parietalia permagna, headache and vascular anomaly.

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Ghassibé, Michella [UCL] Bernier, Vincent Boon, Laurence M. [UCL] Vikkula, Miikka [UCL]
Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 2006
Journal information "European Journal of Pediatrics" - Vol. 165, no. 10, p. 734-735 (2006)
Peer reviewed yes
Publisher Springer (Heidelberg)
issn 0340-6199
e-issn 1432-1076
Publication status Publié
Affiliations UCL - MD/BICL - Département de biochimie et de biologie cellulaire
UCL - MD/CHIR - Département de chirurgie
UCL - (SLuc) Service de chirurgie plastique
UCL - (SLuc) Centre de génétique médicale UCL
MESH Subject Abnormalities, Multiple - genetics ; DNA-Binding Proteins - genetics ; Family Health ; Headache - etiology ; Homeodomain Proteins - genetics ; Humans ; Mutation ; Parietal Bone - abnormalities - radiography ; Pedigree ; Skull - blood supply ; Veins - abnormalities
Links
  1. Garcia-Minaur S, Mavrogiannis LA, Rannan-Eliya SV, Hendry MA, Liston WA, Porteous ME, Wilkie AO (2003) Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. Eur J Hum Genet 11(11):892–895
  2. Mavrogiannis LA, Antonopoulou I, Baxova A, Kutilek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM, Wilkie AOM (2001) Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nat Genet 27(1):17–18
  3. Mavrogiannis LA, Taylor IB, Davies SJ, Ramos FJ, Olivares JL, Wilkie AO (2006) Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. Eur J Hum Genet 14(2):151–158
  4. Preis S, Engelbrecht V, Lenard HG (1995) Aplasia cutis congenita and enlarged parietal foramina (Catlin marks) in a family. Acta Paediatr 84(6):701–702
  5. Reddy A. T., Hedlund G. L., Percy A. K., Enlarged parietal foramina: Association with cerebral venous and cortical anomalies, 10.1212/wnl.54.5.1175
  6. Wilkie AO, Tang Z, Elanko N, Walsh S, Twigg SRF, Hurst JA, Wall SA, Chrzanowska KH, Maxson RE Jr (2000) Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet 24(4):387–390
  7. Wuyts W, Reardon W, Preis S, Homfray T, Rasore-Quartino A, Christians H, Willems PJ, Van Hul W (2000) Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. Hum Mol Genet 9(8):1251–1255
Bibliographic reference Ghassibé, Michella ; Bernier, Vincent ; Boon, Laurence M. ; Vikkula, Miikka. A novel mutation in the MSX2 homeobox gene of a family with foramina parietalia permagna, headache and vascular anomaly.. In: European Journal of Pediatrics, Vol. 165, no. 10, p. 734-735 (2006)
Permanent URL http://hdl.handle.net/2078.1/21938