Linked Life Data

18478600

Source:http://linkedlifedata.com/resource/pubmed/id/18478600

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2008-5-27
pubmed:abstractText
Popliteal pterygium syndrome (PPS) and Van der Woude syndrome (VWS) are caused by mutations in the gene interferon regulatory factor 6 (IRF6). Skeletal, genital malformations and involvement of the skin occur in PPS and orofacial clefting and lip pits occur in both. We report on a patient with unilateral cleft lip and palate, ankyloblepharon, paramedian lip pits, unilateral renal aplasia, and a coronal hypospadias. By sequencing IRF6, we detected a novel missense mutation (Arg339Ile). The other family members were unaffected and had no IRF6 mutations, including the patient's brother who was also born with hypospadias. The patient and his brother were both conceived by in vitro fertilization (IVF). It is discussed whether the renal malformation in the patient is related to the IVF procedure or to the IRF6 mutation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1552-4833
pubmed:author
pubmed:copyrightInfo
2008 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:day
15
pubmed:volume
146A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1605-8
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.
pubmed:affiliation
Department of Plastic and Reconstructive Surgery and Burns Unit, University Hospital of Copenhagen, Rigshospitalet, Denmark. filipe@dadlnet.dk
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't