Source:http://linkedlifedata.com/resource/pubmed/id/19533782
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
7
|
| pubmed:dateCreated |
2009-6-25
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| pubmed:abstractText |
The 11q terminal deletion disorder (11q-) is a rare chromosomal disorder caused by a deletion in distal 11q. Fifty-six percent of patients have clinically significant congenital heart defects. A cardiac "critical region" has been identified in distal 11q that contains over 40 annotated genes. In this study, we identify the distal breakpoint of a patient with a paracentric inversion in distal 11q who had hypoplastic left heart and congenital thrombocytopenia. The distal breakpoint mapped to JAM-3, a gene previously identified as a candidate gene for causing HLHS in 11q-. To determine the role of JAM-3 in cardiac development, we performed a comprehensive cardiac phenotypic assessment in which the mouse homolog for JAM-3, JAM-C, has been deleted. These mice have normal cardiac structure and function, indicating that haplo-insufficiency of JAM-3 is unlikely to cause the congenital heart defects that occur in 11q- patients. Notably, we identified a previously undescribed phenotype, jitteriness, in most of the sick or dying adult JAM-C knockout mice. These data provide further insights into the identification of the putative disease-causing cardiac gene(s) in distal 11q, as well as the functions of JAM-C in normal organ development.
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| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:issn |
1552-4833
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| pubmed:author | |
| pubmed:issnType |
Electronic
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| pubmed:volume |
149A
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
1438-43
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| pubmed:dateRevised |
2009-11-2
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| pubmed:meshHeading |
pubmed-meshheading:19533782-Adult,
pubmed-meshheading:19533782-Animals,
pubmed-meshheading:19533782-Cell Adhesion Molecules,
pubmed-meshheading:19533782-Chromosomes, Human, Pair 11,
pubmed-meshheading:19533782-Disease Models, Animal,
pubmed-meshheading:19533782-Female,
pubmed-meshheading:19533782-Gene Deletion,
pubmed-meshheading:19533782-Heart,
pubmed-meshheading:19533782-Heart Defects, Congenital,
pubmed-meshheading:19533782-Humans,
pubmed-meshheading:19533782-Infant, Newborn,
pubmed-meshheading:19533782-Jacobsen Distal 11q Deletion Syndrome,
pubmed-meshheading:19533782-Male,
pubmed-meshheading:19533782-Mice,
pubmed-meshheading:19533782-Mice, Knockout,
pubmed-meshheading:19533782-Phenotype,
pubmed-meshheading:19533782-Pregnancy,
pubmed-meshheading:19533782-Thrombocytopenia, Neonatal Alloimmune,
pubmed-meshheading:19533782-Young Adult
|
| pubmed:year |
2009
|
| pubmed:articleTitle |
Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice.
|
| pubmed:affiliation |
Department of Pediatrics, Division of Cardiology, UCSD School of Medicine, San Diego, California, USA.
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
|