Letters to the editor
Suggestive linkage of situs inversus and other left-right axis anomalies to chromosome 6p
| The first 150 words of the full text of this article appear below. |
EDITOR
Congenital heart disease occurs commonly.
One form, heterotaxy, accounts for approximately 3-4% of the total
incidence and has a mortality rate approaching 45%.1
Given that the diagnosis is based on the discordance of the left-right
(LR) sidedness between the abdominal viscera and atria,2
heterotaxy describes a group of malformations arising from the abnormal
development of LR asymmetry.3
In familial cases one can find subjects with complete, mirror image reversal of normal LR anatomy (situs inversus), and others who manifest the hallmark visceroatrial discordance as well as other laterality malformations (sometimes collectively called situs ambiguus). Moreover other family members with normal LR anatomy (situs solitus) are obligate disease gene carriers by virtue of their pedigree position.
Many genes have been implicated in normal and abnormal LR axis
development among non-human vertebrates.4 Knowledge
remains sparse, however, regarding the molecular genetics of human LR malformations. Positional cloning identified a gene,
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