TY - JOUR
T1 - A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p
AU - Wessels, Marja W.
AU - Graaf, Bianca M.
AU - Cohen-Overbeek, Titia E.
AU - Spitaels, Silja E.
AU - Groot-de Laat, Lotte E.
AU - Ten Cate, Folkert J.
AU - Frohn-Mulder, Ingrid F.M.
AU - de Krijger, Ronald
AU - Bartelings, Margot M.
AU - Essed, Nienke
AU - Wladimiroff, Jury W.
AU - Niermeijer, Martinus F.
AU - Heutink, Peter
AU - Oostra, Ben A.
AU - Dooijes, Dennis
AU - Bertoli-Avella, Aida M.
AU - Willems, Patrick J.
PY - 2008/1
Y1 - 2008/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=37749050892&partnerID=8YFLogxK
U2 - 10.1007/s00439-007-0436-x
DO - 10.1007/s00439-007-0436-x
M3 - Article
C2 - 17938964
AN - SCOPUS:37749050892
SN - 0340-6717
VL - 122
SP - 595
EP - 603
JO - Human Genetics
JF - Human Genetics
IS - 6
ER -