ДИФФЕРЕНЦИАЛЬНАЯ ДИАГНОСТИКА НАСЛЕДСТВЕННЫХ ФОРМ ВРОЖДЕННОЙ АНИРИДИИ С ПОЗИЦИЙ СОВРЕМЕННОЙ ГЕНЕТИКИ

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Аннотация

Врожденная аниридия (ВА) — наследственный аутосомно-доминантный порок развития глаз. В основе патогенеза ВА лежат гетерозиготные мутации в гене PAX6 и хромосомные перестройки, вовлекающие локус 11p13. Ключевая роль гена PAX6 в регуляции эмбриогенеза и плейотропность действия этого транскрипционного фактора объясняют возможность поражения сразу нескольких сред переднего отрезка глаз и глазного дна, структур головного мозга, а также нарушение морфогенеза и эндокринной функции поджелудочной железы, наблюдаемые при ВА. В последнее время ВА стала рассматриваться рядом исследователей как синдромальная патология. В обзоре собраны сведения о клинической характеристике, генетической основе различных форм ВА. Обсуждается проблема дискриминации клинико-генетических вариантов дисгенезии переднего отрезка глаза и дифференциальной диагностики PAX6-ассоциированной ВА с синдромом WAGR, дисгенезиями переднего отрезка глаз, другими редкими моногенными и хромосомными синдромами; подчеркивается роль молекулярной диагностики.

Об авторах

Татьяна Алексеевна Васильева

Медико-генетический научный центр

Email: vasilyeva_debrie@mail.ru
ORCID iD: 0000-0002-6744-0567

Научный сотрудник лаборатории генетической эпидемиологии ФГБНУ «МГНЦ».

115478, Москва, ул. Москворечье, д. 1, тел.: +7 (499) 320-60-90.

SPIN-код: 7759-9570

Россия

Анна Александровна Воскресенская

Межотраслевой научно-технический комплекс «Микрохирургия глаза» имени академика С.Н. Фёдорова, Чебоксарский филиал

Email: vsolaris@mail.ru
ORCID iD: 0000-0003-4213-4923

Врач-офтальмолог отделения амбулаторной хирургии и консервативных методов лечения Чебоксарского филиала.

428028, Чебоксары, пр. Тракторостроителей, д. 10, тел.: +7 (8352) 30-50-00.

SPIN-код: 8117-8135

Россия

Ольга Вадимовна Хлебникова

Медико-генетический научный центр

Email: khlebnikova@med-gen.ru
ORCID iD: 0000-0003-4947-4314

Доктор медицинских наук, ведущий научный сотрудник научно-консультативного отдела.

115478, Москва, ул. Москворечье, д. 1.

SPIN-код: 1452-8249

Россия

Надежда Александровна Поздеева

Межотраслевой научно-технический комплекс «Микрохирургия глаза» имени академика С.Н. Фёдорова, Чебоксарский филиал

Email: npozdeeva@mail.ru
ORCID iD: 0000-0003-3637-3645

Доктор медицинских наук, заместитель директора по научной работе Чебоксарского филиала ФГАУ «МНТК «Микрохирургия глаза» им. акад. С.Н. Федорова» Минздрава России

428028, Чебоксары, пр. Тракторостроителей, д. 10, тел.: +7 (8352) 30-50-81.

SPIN-код: 2878-7280

Андрей Владимирович Марахонов

Медико-генетический научный центр; Московский физико-технический институт (государственный университет)

Автор, ответственный за переписку.
Email: marakhonov@generesearch.ru
ORCID iD: 0000-0002-0972-5118

Старший научный сотрудник лаборатории генетической эпидемиологии ФГБНУ «МГНЦ», старший научный сотрудник лаборатории функционального анализа генома МФТИ.

115478, Москва, ул. Москворечье, д. 1.

SPIN-код: 6803-9072

Россия

Рена Абульфазовна Зинченко

Медико-генетический научный центр; Российский национальный исследовательский медицинский университет имени Н.И. Пирогова

Email: renazinchenko@mail.ru
ORCID iD: 0000-0003-3586-3458

Доктор медицинских наук, профессор, заведующая лабораторией генетической эпидемиологии ФГБНУ «МГНЦ», профессор кафедры молекулярной и клеточной генетики МБФ ФГБОУ ВО «РНИМУ им. Н.И. Пирогова» МР.

115478, Москва, ул. Москворечье, д. 1, тел.: +7 (499) 324-12-24.

SPIN-код: 7273-4358

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