Abstract
Werner mesomelic syndrome is an autosomal domi nant disorder characterized by hypo- or aplasia of the tibiae in addition to the preaxial polydactyly (PPD) and/or triphalangeal thumb. To date molecular-genetic cause of disease is mutations at position 404 of the zone of polarizing activity regulatory sequence (ZRS), a long-range limb-specific enhancer of the sonic hedgehog (SHH) gene, which situated in LMBR1 gene. This article reports about first family with Werner mesomelic syndrome with moiecuiar confirmation in Russia. New mutation in patient at position 403 within the ZRS region was detected. These data suggest that transitions not only at position 404 within the ZRS region lead to a more severe clini cal phenotype with the affection of tib i al development.
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