Source:http://linkedlifedata.com/resource/pubmed/id/17264868
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
2007-3-22
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| pubmed:abstractText |
Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, malformations of the upper limbs, and delay in growth and development. Mutations in NIPBL are associated with CdLS in 27-56% of cases and have been reported as point mutations, small insertions and deletions in coding regions, regulatory regions and at splice junctions. All previous studies used PCR-based exon-scanning methodologies that do not allow detection of large genomic rearrangements. We studied the relative copy number of NIPBL exons in a series of 50 CdLS probands, negative for NIPBL mutations, by multiplex ligation-dependent probe amplification (MLPA). In a single patient, we found a 5.2 kb deletion encompassing exons 41-42 of NIPBL. Our studies indicate that large NIPBL rearrangements do occur in CdLS but are likely to be infrequent events.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
1018-4813
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
15
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
505-8
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| pubmed:meshHeading |
pubmed-meshheading:17264868-Adolescent,
pubmed-meshheading:17264868-Adult,
pubmed-meshheading:17264868-Child,
pubmed-meshheading:17264868-Child, Preschool,
pubmed-meshheading:17264868-Chromosomes, Human, Pair 9,
pubmed-meshheading:17264868-Cohort Studies,
pubmed-meshheading:17264868-DNA Mutational Analysis,
pubmed-meshheading:17264868-De Lange Syndrome,
pubmed-meshheading:17264868-Exons,
pubmed-meshheading:17264868-Female,
pubmed-meshheading:17264868-Gene Deletion,
pubmed-meshheading:17264868-Gene Rearrangement,
pubmed-meshheading:17264868-Genome, Human,
pubmed-meshheading:17264868-Humans,
pubmed-meshheading:17264868-Infant,
pubmed-meshheading:17264868-Male,
pubmed-meshheading:17264868-Middle Aged,
pubmed-meshheading:17264868-Nucleic Acid Amplification Techniques,
pubmed-meshheading:17264868-Pedigree,
pubmed-meshheading:17264868-Phenotype,
pubmed-meshheading:17264868-Proteins
|
| pubmed:year |
2007
|
| pubmed:articleTitle |
Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.
|
| pubmed:affiliation |
Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. Z.A.Bhuiyan@amc.uva.nl
|
| pubmed:publicationType |
Journal Article,
Case Reports
|