medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-251Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHСиндром врожденной центральной гиповентиляции: клинические особенности, молекулярно-генетические причины, ДНК-диагностикаCongenital central hypoventilation syndrome: clinical features, molecular genetic basis, DNA diagnosticsЗабненковаВ. В.ZabnenkovaV. V.V_Zabnenkova@dnalab.ruГалееваН. М.GaleevaN. M.noemail@neicon.ruЧухроваА. Л.ChukhrovaA. L.noemail@neicon.ruПоляковА. В.PolyakovA. V.noemail@neicon.ruМедико-генетический научный центрРоссияResearch Centre for Medical GeneticsRussian Federation2017190920171634652Copyright © Забненкова В.В., Галеева Н.М., Чухрова А.Л., Поляков А.В., 20172017Забненкова В.В., Галеева Н.М., Чухрова А.Л., Поляков А.В.Zabnenkova V.V., Galeeva N.M., Chukhrova A.L., 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/251

Синдром врожденной центральной гиповентиляции (СЦГВ) представляет собой редкое аутосомно-доминантное заболевание, характеризующееся первичной альвеолярной гиповентиляцией во время сна, а в тяжелых случаях - и во время бодрствования, и нарушением вегетативной регуляции дыхания. СЦВГ манифестирует, как правило, в первые дни жизни. Причиной заболевания в 92% случаев является экспансия полиаланинового повтора в гене PHOX2B , реже альтернативные мутации в данном гене. Феномен антиципации отсутствует, однако показана фено-генотипическая корреляция: тяжесть течения заболевания зависит от числа повторов. В 90-95% случаев мутации происходят de novo . Описаны аллели с неполной пенетрантностью, являющиеся причиной синдрома врожденной центральной гиповентиляции с поздним началом, а также объясняющие в ряде случаев повторное рождение больных детей от бессимптомных родителей. Данная статья отображает основные сведения по синдрому врожденной центральной гиповентиляции и демонстрирует результаты молекулярной диагностики СЦГВ в ФГБНУ «МГНЦ».

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder, characterized by primary alveolar hypoventilation and autonomic dysregulation. CCHS is caused in 92% of patients by heterozygous polyalanine expansion from 24 to 33 repeats, located in exon 3 of PHOX2B gene. Missense, nonsense and frameshift PHOX2B mutations explain most of the remaining cases. There is a correlation between the mutation type and the severity of the phenotype in CCHS. Mutations occur de novo in 90-95% of cases. Alleles with 24-25 repeats are classified as incomplete penetrance alleles. These alleles are the cause of congenital central hypoventilation syndrome with late-onset and may explain the re-birth of sick children from asymptomatic parents in some cases. This article shows basic information on central congenital hypoventilation syndrome and the results of molecular diagnostics CCHS in FSBI «RCMG».

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