Evidence for genetic heterogeneity in Carvajal syndrome.

[oligodontia]

Carvajal syndrome is a rare syndrome with woolly hair , palmoplantar keratosis and dilated cardiomyopathy . The inheritance of the mutation is autosomal recessive . As a causal gene , the desmoplakin gene (DSP ) has so far been identified ; it encodes an essential component of desmosomes , a cell-cell structure aimed at keeping cells attached to each other in tissues in which cells are often exposed to strong shear forces . Recently , familial cases of an autosomal dominant Carvajal syndrome were documented with a new feature : hypo /oligodontia . A mutation in the DSP gene was also evidenced in these latter cases . A patient was seen for cardiogenetic consultation at the University Hospital of Lyon with cardiac failure involving first degree atrioventricular block , complete left bundle branch block , non-compaction of the apex of the left ventricle and a dilated cardiomyopathy . A coronarography disclosed a complete thrombosis of the right coronary artery . At examination , he had also woolly hair , mild palmoplantar keratosis and missing teeth (essentially molars and premolars ). His family history was uninformative . His DNA was screened for mutations in the DSP and plakoglobin genes but no mutation could be found . This case suggests that Carvajal syndrome with hypo /oligodontia is a heterogeneous condition in which genes other than DSP might be involved , although we can not rule out a mutation in this gene consisting in a deletion of a single exon or a gene rearrangement .