Advanced search
Publication Cover
Ophthalmic Genetics Volume 31, 2010 - Issue 4
Submit an article Journal homepage
241
Views
18
CrossRef citations to date
0
Altmetric
Original Article

A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

K. AliferisCentre de Référence pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, FranceCorrespondencek.aliferis@gmailcom
,
C. MarsalCentre de Référence pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
,
V. PelletierCentre de Référence pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
,
B. DorayMedical Genetics Department, Strasbourg University Hospitals, Strasbourg, France
,
M.M. WeissCenter for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
,
C.M.J. TopsCenter for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
,
C. Speeg-SchatzOphthalmology Department, Strasbourg University Hospitals, Strasbourg, France
,
S.A.J. LesnikCenter for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
&
H. Dollfus
 show all
Pages 205-208 | Received 11 May 2010, Accepted 24 Jul 2010, Published online: 11 Nov 2010

REFERENCES

  • Maillette de Buy Wenniger-Prick LJ, Hennekam RC. The Peters’ plus syndrome: a review. Ann Genet 2002:45;97–103.
  • Reis LM, Tyler RC, Abdul-Rahman O et al. Mutation analysis of B3GALTL in Peters Plus syndrome. Am J Med Genet A 2008:146A; 2603–2610.
  • Lesnik Oberstein SA, Kriek M, White SJ et al. Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet 2006:79;562–566.
  • Haldeman-Englert CR, Naeem T, Geiger EA et al: A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome. Am J Med Genet Part A 2009:149A;1842–1845.
  • Dassie-Ajdid J, Causse A, Poidvin A et al. Novel B3GALTL mutation in Peters-plus Syndrome. Clin Genet 2009 Nov:76(5);490–492.
  • Eberwein P, Reinhard T, Agostini H, Poloschek CM, Guthoff R, Auw-Haedrich C. Intensive intracorneal keloid formation in a case of Peters plus syndrome and in Peters anomaly with maximum manifestation. Ophthalmologe 2009 Sep 12.
  • Cabral de Almeida JC, Reis DF, Llerena J,Neto JB, Pontes RC, Middleton S, et al. Short stature, brachydactyly, and Peters’ anomaly (Peters’ plus syndrome): confirmation of autosomal recessive inheritance. J. Med. Genet 1991:2;:277–279.
  • Camera G, Centa A, Pozzolo S, Camera A. Peters’ plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance. Clin. Dysmorphol 1993:2;317–321.
  • Heinonen TY, Maki M. Peters’-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats. Ann Med 2009:41; 2–10.
  • Hess D, Keusch JJ, Oberstein SA et al. Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective O-glycosylation of thrombospondin type 1 repeats. J Biol Chem 2008:283;7354–7360.
  • Van Reeuwijk J, Janssen M, Van Den EC, Beltran-Valero de Bernabe D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, Van Bokhoven H. POMT2 mutations cause a-dystroglycan hypoglycosylation and Walker- Warburg syndrome. J Med Genet 2005: 42;907–912.
  • American Academy of Ophthalmology: Basic and Clinical Science Course 2007–2008; section 8: External Disease and Cornea, pp 8–12.
  • Forrester JV, Dick AD, McMenamin PG, Lee WR. The eye: Basic science in practice. (2nd ed.), Saunders WB, Edinburgh et al., 2002, pp 16–20.
  • Heon E, Barsoum-Homsy M, Cevrette L et al. Peters anomaly: The spectrum of associated ocular and systemic malformations. Ophthalmic Pediatr Genet 1992:13; 137–143.
  • Ozeki H, Shirai S, Nozaki M et al.: Ocular and systemic features of Peters’ anomaly. Graefes Arch Clin Exp Ophthalmol 2000: 238; 833–839.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.