Linked Life Data

21204215

Source:http://linkedlifedata.com/resource/pubmed/id/21204215

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2011-1-4
pubmed:abstractText
Mutations in the ARX gene cause both nonsyndromic and several forms of syndromic mental retardation (MR). Two polyalanine (polyA) expansions of ARX are recurrent mutations. The most common one, the c.428_451dup, is associated with a wide spectrum of phenotypes, ranging from the most severe West syndrome to Partington syndrome (MR and hand dystonia), and even nonsyndromic X-linked mental retardation (NS-XLMR). Studies of patients not selected for specific clinical signs showed that the c.428_451dup is relatively frequent in families harboring X-linked MR (7.5%), but less common in familial cases compatible with X-linked NR (1%), and very rare in sporadic cases (0.1%). The c.333_334ins(GCG)7 expansion is less frequent and mainly associated with West syndrome. We screened for both ARX polyA expansions in 98 unrelated patients selected for the presence of NR associated with different types of epilepsy and/or with hand dystonia. We also studied two families with an initial diagnosis of NS-XLMR, one of which was identified as showing linkage to the ARX locus. The c.428_451dup was identified in three patients and the c.333_334ins(GCG)7 in one; all of the patients were from families with two affected brothers. We also found the c.428_451dup in the family linked to ARX, and clinical re-evaluation showed subtle, previously undetected signs. Our study illustrates that ARX polyA expansions are primarily associated with syndromic MR and shows a higher yield (18% in our cohort) when these mutations are screened in familial cases of MR with epilepsy and/or dystonia.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1552-4833
pubmed:author
pubmed:copyrightInfo
Copyright © 2010 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
155A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
98-105
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed-meshheading:21204215-Adolescent, pubmed-meshheading:21204215-Adult, pubmed-meshheading:21204215-Base Sequence, pubmed-meshheading:21204215-Child, pubmed-meshheading:21204215-Child, Preschool, pubmed-meshheading:21204215-Chromosome Mapping, pubmed-meshheading:21204215-DNA Repeat Expansion, pubmed-meshheading:21204215-Homeodomain Proteins, pubmed-meshheading:21204215-Humans, pubmed-meshheading:21204215-Intellectual Disability, pubmed-meshheading:21204215-Male, pubmed-meshheading:21204215-Microsatellite Repeats, pubmed-meshheading:21204215-Molecular Sequence Data, pubmed-meshheading:21204215-Pedigree, pubmed-meshheading:21204215-Peptides, pubmed-meshheading:21204215-Phenotype, pubmed-meshheading:21204215-Sequence Analysis, DNA, pubmed-meshheading:21204215-Syndrome, pubmed-meshheading:21204215-Transcription Factors
pubmed:year
2011
pubmed:articleTitle
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
pubmed:affiliation
Hôpitaux Universitaires de Strasbourg, France. mireille.cossee@cch.aphp.fr
pubmed:publicationType
Journal Article, Case Reports