Human Molecular Genetics, Vol 7, 1565-1571, Copyright © 1998 by Oxford University Press
B Casey
Like all vertebrates, humans establish anatomical left-right asymmetry
during embryogenesis. Variation from this normal arrangement (situs
solitus) results in heterotaxy, expressed either as randomization (situs
ambiguus) or complete reversal (situs inversus) of normal organ position.
Familial heterotaxy occurs with autosomal dominant, recessive and X-linked
inheritance. All possible situs variants, solitus, ambiguus and inversus,
can appear among some heterotaxy families. Positional cloning has led to
the identification of a gene on the X chromosome responsible for some cases
of human heterotaxy. Additional candidate genes have emerged from recent
studies of left-right axis development in chick, frog and mouse, which have
begun to elucidate a tightly regulated genetic cascade that differentiates
the left and right sides prior to the appearance of morphological
asymmetry.
REVIEWS
Two rights make a wrong: human left-right malformations
Department of Pathology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA. bcasey@bcm.tmc.edu
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