medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.1234/XXXX-XXXX-2013-2-37-40medgen-43Research ArticleСЛУЧАЙ ИЗ ПРАКТИКИCASE REPORTМЕЗОМЕЛИЧЕСКАЯ ДИСПЛАЗИЯ С ПРЕАКСИАЛЬНОЙ ПОЛИДАКТИЛИЕЙ ВЕРНЕРА, ОБУСЛОВЛЕННАЯ МУТАЦИЕЙ В РЕГУЛЯТОРНОМ ЭЛЕМЕНТЕ ZRS ГЕНА SHHWERNER MESOMELIC SYNDROME WITH PREAXIAL POLYDACTYLY, INDUCED BY MUTATION IN ZONE OF POLARIZING ACTIVITY REGULATORY SEQUENCE (ZRS) OF GENE SHHФедотовВ. П.FedotovV. P.ГалееваН. М.GaleevaN. M.dnaiab@med-gen.ruПоляковА. В.PolyakovA. V.dnaiab@med-gen.ruМедико-генетическая консультация, Областная клиническая больница,РоссияRegional Clinical Hospital, Genetic counseling, Voronezh, Russian FederationRussian FederationФедеральное государственное бюджетное учреждение «Медико-генетический научный центр»РоссияResearch Centre for Med ical GeneticsRussian Federation2013231220151223740Copyright © Федотов В.П., Галеева Н.М., Поляков А.В., 20152015Федотов В.П., Галеева Н.М., Поляков А.В.Fedotov V.P., Galeeva N.M., Polyakov A.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/43

Мезомелическая дисплазия Вернера — редкое аутосомно-доминантное заболевание, характеризующееся сочетанием гипоплазии/аплазии большеберцовых костей с преаксиальной полидактилией и/или трёхфаланговым большим пальцем кистей. Молекулярно-генетической причиной заболевания, по данным литературы, являются мутации в положении 404 регуляторного элемента (ZRS) гена SHH, находящемся в гене LMBR1. В настоящей работе впервые в отечественной литературе приводится семейное наблюдение мезомелической дисплазии Вернера с молекулярно-генетической верификацией диагноза. У пациента с данным заболеванием впервые выявлена точковая замена в положении 403 регуляторного элемента ZRS гена SHH. По результатам исследования, можно предположить, что замены не только в положении 404 ZRS, но, возможно, и в окружающей области данного нуклеотида, помимо преаксиальной полидактилии и трёхфалангового большого пальца, приводят к поражению костей голени и мезомелической дисплазией Вернера.

 

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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The authors declare that there are no conflicts of interest present.