Цитологія і генетика 2020, том 54, № 4, 87-89
Cytology and Genetics 2020, том 54, № 4, 353–362, doi: https://www.doi.org/10.3103/S0095452720040106

Novel mutation с.7348C>T in NF1 gene identified by whole­exome sequencing in patient with overlapping clinical symptoms of neurofibromatosis type 1 and bannayan­riley­ruvalcaba syndrome

Rahmani E.S., Azarpara H., Abazari M.F., Mohajeri M.R., Nasimi M., Ghorbani R., Azizpour A., Rahimi H.

  1. Department of Medical Biotechnology, School of Allied Medicine, Iran University of Medical Science, Tehran, Iran
  2. Department of Medicine, Iran University of Medical Science, Tehran, Iran
  3. Department of Genetics, Tehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran
  4. Department of Dermatology Razi Hospital, Tehran University of Medical Science, Tehran, Iran
  5. Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran

РЕЗЮМЕ. Нейрофіброматоз 1 типу (NF-1) – це аутосомне домінантне захворювання, яке призводить до виникнення доброякісних пухлин на шкірі та в оболонках нервів. Шкірні пухлини називають плексиформними нейрофібромами. Деякі з них добре видно неозброєним оком і вони можуть впливати на якість життя. Також вони можуть розвиватися в інвазивні форми карцином та інфільтрувати у багато тканин, чим ставлять життя пацієнта під загрозу. Мутації гену NF1 з втратою функції відповідають NF-1 типу. Через великий розмір гену NF1 (~ 350 кб і 60 екзонів) на іншому локусі існують деякі псевдогени; молекулярна характеристика пацієнтів ускладнена відсутністю «гарячої точки» мутації. У цьому дослідженні ми повідомляємо про пацієнта, який мав симптоми і NF-1, і синдрому Баннаяна-Райлі-Рувалькаба (BRRS), а також про наше проведення повноекзомного секвенування (WES) і аналізу даних для молекулярної характеристики. Ці результати показали одиничний гетерозиготний нуклеотидний варіант (c.7348C>T) гену NF1, який викликав передчасний стоп-кодон (p.Arg2450Ter) та процесований білок, чим спричинив клінічні ознаки пацієнта. Згідно з результатами, WES – це швидкий та малозатратний підхід до молекулярної діагностики змішаного фенотипу NF-1.

Ключові слова: нейрофіброматоз типу 1(NF-1), синдром Баннаян-Райлі-Рувалькаба (BRRS), повноекзомне секвенування (WES), нейрофібромін, біоінформатика, молекулярний діагноз

Цитологія і генетика
2020, том 54, № 4, 87-89

Current Issue
Cytology and Genetics
2020, том 54, № 4, 353–362,
doi: 10.3103/S0095452720040106

Повний текст та додаткові матеріали

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