Linked Life Data

17106445

Source:http://linkedlifedata.com/resource/pubmed/id/17106445

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2007-1-18
pubmed:abstractText
Cornelia de Lange syndrome (CdLS; OMIM 122470) is a rare multiple congenital anomaly/mental retardation syndrome characterized by distinctive dysmorphic facial features, severe growth and developmental delay and abnormalities of the upper limbs. About 50% of CdLS patients have been found to have heterozygous mutations in the NIPBL gene and a few cases were recently found to be caused by mutations in the X-linked SMC1L1 gene. We performed a mutation screening of all NIPBL coding exons by direct sequencing in 11 patients (nine sporadic and two familial cases) diagnosed with CdLS in Sweden and detected mutations in seven of the cases. All were de novo, and six of the mutations have not been previously described. Four patients without identifiable NIPBL mutations were subsequently subjected to multiplex ligation-dependent probe amplification analysis to exclude whole exon deletions/duplications of NIPBL. In addition, mutation analysis of the 5' untranslated region (5' UTR) of NIPBL was performed. Tiling resolution array comparative genomic hybridization analysis was carried out on these four patients to detect cryptic chromosome imbalances and in addition the boys were screened for SMC1L1 mutations. We found a de novo 9p duplication with a size of 0.6 Mb in one of the patients with a CdLS-like phenotype but no mutations were detected in SMC1L1. So far, two genes (NIPBL and SMC1L1) have been identified causing CdLS or CdLS-like phenotypes. However, in a considerable proportion of individuals demonstrating the CdLS phenotype, mutations in any of these two genes are not found and other potential loci harboring additional CdLS-causing genes should be considered.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1018-4813
pubmed:author
pubmed:issnType
Print
pubmed:volume
15
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
143-9
pubmed:meshHeading
pubmed-meshheading:17106445-5' Untranslated Regions, pubmed-meshheading:17106445-Adolescent, pubmed-meshheading:17106445-Cell Cycle Proteins, pubmed-meshheading:17106445-Child, pubmed-meshheading:17106445-Chromosomal Instability, pubmed-meshheading:17106445-Chromosomal Proteins, Non-Histone, pubmed-meshheading:17106445-Chromosomes, Human, Pair 9, pubmed-meshheading:17106445-Cohort Studies, pubmed-meshheading:17106445-DNA Mutational Analysis, pubmed-meshheading:17106445-De Lange Syndrome, pubmed-meshheading:17106445-Female, pubmed-meshheading:17106445-Humans, pubmed-meshheading:17106445-Male, pubmed-meshheading:17106445-Mutation, pubmed-meshheading:17106445-Nucleic Acid Hybridization, pubmed-meshheading:17106445-Phenotype, pubmed-meshheading:17106445-Proteins, pubmed-meshheading:17106445-Sweden
pubmed:year
2007
pubmed:articleTitle
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.
pubmed:affiliation
Department of Molecular Medicine and Surgery, Karolinska Institute, Karolinska University Hospital Solna, Stockholm, Sweden. jacqueline.schoumans@ki.se
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't