A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p Export

@article{citeulike:6040941, abstract = {Abstract\ \ We report a three-generation family with nine patients affected by a combination of cardiac abnormalities and left isomerism which, to our knowledge, has not been described before. The cardiac anomalies include non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. The laterality sequence anomalies include left bronchial isomerism, azygous continuation of the inferior vena cava, polysplenia and intestinal malrotation, all compatible with left isomerism. This new syndrome is inherited in an autosomal dominant pattern. A genome-wide linkage analysis suggested linkage to chromosome 6p24.3–21.2 with a maximum LOD score of 2.7 at marker D6S276. The linkage interval is located between markers D6S470 (telomeric side) and D6S1610 (centromeric side), and overlaps with the linkage interval in another family with heterotaxy reported previously. Taken together, the genomic region could be reduced to 9.4\ cM (12\ Mb) containing several functional candidate genes for this complex heterotaxy phenotype.}, author = {Wessels, Marja and De Graaf, Bianca and Cohen-Overbeek, Titia and Spitaels, Silja and de Groot-de Laat, Lotte and Ten Cate, Folkert and Frohn-Mulder, Ingrid and de Krijger, Ronald and Bartelings, Margot and Essed, Nienke and Wladimiroff, Jury and Niermeijer, Martinus and Heutink, Peter and Oostra, Ben A. and Dooijes, Dennis and Bertoli-Avella, Aida and Willems, Patrick}, citeulike-article-id = {6040941}, citeulike-linkout-0 = {http://dx.doi.org/10.1007/s00439-007-0436-x}, citeulike-linkout-1 = {http://www.springerlink.com/content/c156ln036h6470vl}, day = {1}, doi = {10.1007/s00439-007-0436-x}, journal = {Human Genetics}, keywords = {non-compaction\_cardiomyopathie}, month = {January}, number = {6}, pages = {595--603}, posted-at = {2009-10-30 08:51:52}, priority = {2}, title = {A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p}, url = {http://dx.doi.org/10.1007/s00439-007-0436-x}, volume = {122}, year = {2008} }

TY - JOUR ID - citeulike:6040941 L3 - citeulike-article-id:6040941 N2 - Abstract  We report a three-generation family with nine patients affected by a combination of cardiac abnormalities and left isomerism which, to our knowledge, has not been described before. The cardiac anomalies include non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. The laterality sequence anomalies include left bronchial isomerism, azygous continuation of the inferior vena cava, polysplenia and intestinal malrotation, all compatible with left isomerism. This new syndrome is inherited in an autosomal dominant pattern. A genome-wide linkage analysis suggested linkage to chromosome 6p24.3–21.2 with a maximum LOD score of 2.7 at marker D6S276. The linkage interval is located between markers D6S470 (telomeric side) and D6S1610 (centromeric side), and overlaps with the linkage interval in another family with heterotaxy reported previously. Taken together, the genomic region could be reduced to 9.4 cM (12 Mb) containing several functional candidate genes for this complex heterotaxy phenotype. IS - 6 JF - Human Genetics EP - 603 TI - A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p VL - 122 SP - 595 KW - non-compaction_cardiomyopathie AU - Wessels, Marja AU - De Graaf, Bianca AU - Cohen-Overbeek, Titia AU - Spitaels, Silja AU - de Groot-de Laat, Lotte AU - Ten Cate, Folkert AU - Frohn-Mulder, Ingrid AU - de Krijger, Ronald AU - Bartelings, Margot AU - Essed, Nienke AU - Wladimiroff, Jury AU - Niermeijer, Martinus AU - Heutink, Peter AU - Oostra, Ben AU - Dooijes, Dennis AU - Bertoli-Avella, Aida AU - Willems, Patrick PY - 2008/01/01/ UR - http://dx.doi.org/10.1007/s00439-007-0436-x ER -