Linked Life Data

20671548

Source:http://linkedlifedata.com/resource/pubmed/id/20671548

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2010-9-8
pubmed:abstractText
The X-linked Opitz G/BBB syndrome (OS) is a congenital malformation disorder characterized by hypertelorism, swallowing difficulties, hypospadias, and additional midline malformations. Loss of function mutations in the MID1 gene at Xp22.3 are responsible for the X-linked form of OS. Various mutations are found all over the gene but without a clear genotype-phenotype correlation. We describe additional family studies of a previously reported boy with a relatively mild form of OS, caused by the unique p.Lys370Glu (c.1108A>G) mutation in MID1. The same mutation was found in his clinically affected brother but also in the healthy maternal uncle. To our knowledge, this is the first report of a MID1 missense mutation causing non-penetrance in a male.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1473-5717
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
195-7
pubmed:dateRevised
2011-2-25
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome.
pubmed:affiliation
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. M.Ruiter@antrg.umcn.nl
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't