A new case of syndromic craniosynostosis with cryptic 19p13.2–p13.13 deletion
2009; Wiley; Volume: 149A; Issue: 11 Linguagem: Inglês
10.1002/ajmg.a.33056
ISSN1552-4833
AutoresPhilippe A. Lysy, Marie Ravoet, Sandrine Wustefeld, Pierre Bernard, Marie‐Cécile Nassogne, Elisabeth Wyns, Catherine Sibille,
Tópico(s)Ocular Disorders and Treatments
ResumoAmerican Journal of Medical Genetics Part AVolume 149A, Issue 11 p. 2564-2568 Research Letter A new case of syndromic craniosynostosis with cryptic 19p13.2–p13.13 deletion†‡ Philippe A. Lysy, Corresponding Author Philippe A. Lysy [email protected] HPED Department, PEDI Unit, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, BelgiumUniversité Catholique de Louvain, Av. Hippocrate 10, B-1200 Brussels, Belgium.Search for more papers by this authorMarie Ravoet, Marie Ravoet GMED Department, Center of Medical Genetics, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, BelgiumSearch for more papers by this authorSandrine Wustefeld, Sandrine Wustefeld GMED Department, Center of Medical Genetics, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, BelgiumSearch for more papers by this authorPierre Bernard, Pierre Bernard Obstetrics Service, GYNE Department, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, BelgiumSearch for more papers by this authorMarie-Cécile Nassogne, Marie-Cécile Nassogne Neuropediatrics Service, NEPE Department, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, BelgiumSearch for more papers by this authorElisabeth Wyns, Elisabeth Wyns GMED Department, Center of Medical Genetics, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, BelgiumSearch for more papers by this authorCatherine Sibille, Catherine Sibille GMED Department, Center of Medical Genetics, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, BelgiumSearch for more papers by this author Philippe A. Lysy, Corresponding Author Philippe A. Lysy [email protected] HPED Department, PEDI Unit, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, BelgiumUniversité Catholique de Louvain, Av. Hippocrate 10, B-1200 Brussels, Belgium.Search for more papers by this authorMarie Ravoet, Marie Ravoet GMED Department, Center of Medical Genetics, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, BelgiumSearch for more papers by this authorSandrine Wustefeld, Sandrine Wustefeld GMED Department, Center of Medical Genetics, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, BelgiumSearch for more papers by this authorPierre Bernard, Pierre Bernard Obstetrics Service, GYNE Department, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, BelgiumSearch for more papers by this authorMarie-Cécile Nassogne, Marie-Cécile Nassogne Neuropediatrics Service, NEPE Department, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, BelgiumSearch for more papers by this authorElisabeth Wyns, Elisabeth Wyns GMED Department, Center of Medical Genetics, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, BelgiumSearch for more papers by this authorCatherine Sibille, Catherine Sibille GMED Department, Center of Medical Genetics, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, BelgiumSearch for more papers by this author First published: 28 October 2009 https://doi.org/10.1002/ajmg.a.33056Citations: 12 † How to cite this article: Lysy PA, Ravoet M, Wustefeld S, Bernard P, Nassogne M-C, Wyns E, Sibille C. 2009. A new case of syndromic craniosynostosis with cryptic 19p13.2–p13.13 deletion. Am J Med Genet Part A 149A:2564–2568. ‡ Philippe A. Lysy and Marie Ravoet contributed equally to this work. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Alfi OS, Donnell GN, Allderdice PW, Derencsenyi A. 1976. The 9p- syndrome. Ann Genet 19: 11–16. Archer HL, Gupta S, Enoch S, Thompson P, Rowbottom A, Chua I, Warren S, Johnson D, Ledbetter DH, Lese-Martin C, Williams P, Pilz DT. 2005. Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter. Am J Med Genet Part A 136A: 38–44. Arlt W. 2007. P450 oxidoreductase deficiency and Antley-Bixler syndrome. Rev Endocr Metab Disord 8: 301–307. Aten E, den Hollander N, Ruivenkamp C, Knijnenburg J, van Bokhoven H, den Dunnen J, Breuning M. 2009. Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity? Am J Med Genet Part A 149A: 975–981. Avsian-Kretchmer O, Hsueh AJ. 2004. Comparative genomic analysis of the eight-membered ring cystine knot-containing bone morphogenetic protein antagonists. Mol Edocronol 18: 1–12. Breslau-Siderius EJ, Wijnen JT, Dauwerse JG, de Pater JM, Beemer FA, Khan PM. 1993. Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies. Hum Genet 92: 481–485. Chotai KA, Brueton LA, van Herwerden L, Garrett C, Hinkel GK, Schinzel A, Mueller RF, Speleman F, Winter RM. 1994. Six cases of 7p deletion: Clinical, cytogenetic, and molecular studies. Am J Med Genet 51: 270–276. El Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, Bourgeois P, Bolcato-Bellemin AL, Munnich A, Bonaventure J. 1997. Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet 15: 42–46. Hiraki Y, Moriuchi M, Okamoto N, Ishikawa N, Sugimoto Y, Eguchi K, Sakai H, Saitsu H, Mizuguchi T, Harada N, Matsumoto N. 2008. Craniosynostosis in a patient with a de novo 15q15-q22 deletion. Am J Med Genet Part A 146A: 1462–1465. Hurgoiu V, Suciu S. 1984. Occurrence of 19p- in an infant with multiple dysmorphic features. Ann Genet 27: 56–57. Jabs EW, Muller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB, Snead ML, Maxson R. 1993. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75: 443–450. Jehee FS, Krepischi-Santos AC, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D'Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR. 2008. High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation. J Med Genet 45: 447–450. Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifova D, Mathijssen IM, Morton JE, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nurnberg P, Passos-Bueno MR, Wilkie AO. 2007. RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet 80: 1162–1170. Jensen DR, Martin DM, Gebarski S, Sahoo T, Brundage EK, Chinault AC, Otto EA, Chaki M, Hildebrandt F, Cheung SW, Lesperance MM. 2009. A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. Am J Med Genet Part A 149A: 396–402. Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. 2007. Genetics of craniosynostosis. Semin Pediatr Neurol 14: 150–161. Lewanda AF, Morsey S, Reid CS, Jabs EW. 1995. Two craniosynostotic patients with 11q deletions, and review of 48 cases. Am J Med Genet 59: 193–198. Marques S, Borges AC, Silva AC, Freitas S, Cordenonsi M, Belo JA. 2004. The activity of cerl-2 in the mouse is required for correct L/R body axis. Genes Dev 18: 2342–2347. Oikku A, Mahonen A. 2009. Calreticulin mediated glucocorticoid receptor export is involved in beta-catenin translocation and Wnt signalling inhibition in human osteoblastic cells. Bone 44: 555–565. Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P. 2004. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet 74: 1209–1215. Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'rourke AW, Williams LJ, Seller A, Lester T. 2007. Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet Part A 143A: 1941–1949. Citing Literature Volume149A, Issue11November 2009Pages 2564-2568 ReferencesRelatedInformation
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