| A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly. | |
| | |
MedLine Citation:
|
PMID: 21067481 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Peters plus syndrome is an autosomal recessive rare congenital disorder defined by corneal Peters anomaly with short disproportionate stature, development delay and dysmorphic facial features. In addition, cardiac, genito-urinary and/or central nervous system malformations can be present. Mutations in the beta-1,3-galactosyltransferase-like glycosyltransferase gene (B3GALTL) have been reported in patients with Peters plus syndrome prompting phenotype-genotype studies because of the variable clinical spectrum related to the syndrome. A 20 month old boy presenting with bilateral Peters anomaly in association with multiple developmental anomalies including cerebral malformations was found to carry a novel homozygous B3GALTL nonsense mutation [p.Tyr366X]. This is the first stop mutation described in association with this gene. The present report confirms the wide clinical spectrum of Peters plus syndrome, underlines the major clinical criteria of the syndrome and the major implication of B3GALTL gene in this condition. Ophthalmologic examination in multiple developmental anomalies remains an important clinical issue that may lead to specific gene screening. In Peters plus syndrome B3GALTL molecular test provides diagnosis confirmation and improves dramatically genetic counselling for the families. |
| | |
Authors:
|
K Aliferis; C Marsal; V Pelletier; B Doray; M M Weiss; C M J Tops; C Speeg-Schatz; S A J Lesnik; H Dollfus |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Ophthalmic genetics Volume: 31 ISSN: 1744-5094 ISO Abbreviation: Ophthalmic Genet. Publication Date: 2010 Dec |
Date Detail:
|
Created Date: 2010-11-11 Completed Date: 2011-01-21 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: England |
Other Details:
|
Languages: eng Pagination: 205-8 Citation Subset: IM |
Affiliation:
|
Centre de Référence pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. k.aliferis@gmailcom |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
genetics* Anterior Eye Segment / abnormalities Codon, Nonsense* Corneal Opacity / genetics Developmental Disabilities / genetics Eye Abnormalities / genetics Galactosyltransferases / genetics* Glucosyltransferases / genetics* Humans Infant Male Nervous System Malformations / genetics Polymerase Chain Reaction Syndrome |
| Chemical | |
Reg. No./Substance:
|
0/Codon, Nonsense; EC 2.4.1.-/B3GALTL protein, human; EC 2.4.1.-/Galactosyltransferases; EC 2.4.1.-/Glucosyltransferases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.
Next Document: Astrocytic hamartoma of the optic disc and multiple café-au-lait macules in a child with neurofibro...