کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8809635 | 1607043 | 2016 | 10 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate
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کلمات کلیدی
GTPRBDCRDCdc25IGF-1REMCHDHCMPTPN11GEFGTPase Activating Protein - GTPase فعال کردن پروتئینinsulin-like growth factor I - انسولین مانند عامل رشد IGDP - تولید ناخالص ملیRas family - خانواده راسcysteine-rich domain - دامنه غنی از سیستینRas binding domain - دایرکتوری مرتبط با ریسcell division cycle 25 - سلول تقسیم سلولی 25Noonan syndrome - سندرم نونانGAP - شکافGuanine exchange factor - فاکتور تبادل گوانینconserved region - منطقه حفاظت شدهMutation rate - نرخ جهشCongenital heart defects - نقص مادرزادی قلبGrowth hormone - هورمون رشدHypertrophic cardiomyopathy - کاردیومیوپاتی هایپرتروفیک
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
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چکیده انگلیسی
Noonan syndrome is a common autosomal dominant disorder characterized by short stature, congenital heart disease and facial dysmorphia with an incidence of 1/1000 to 2500 live births. Up to now, several genes have been proven to be involved in the disturbance of the transduction signal through the RAS-MAP Kinase pathway and the manifestation of Noonan syndrome. The first gene described was PTPN11, followed by SOS1, RAF1, KRAS, BRAF, NRAS, MAP2K1, and RIT1, and recently SOS2, LZTR1, and A2ML1, among others. Progressively, the physiopathology and molecular etiology of most signs of Noonan syndrome have been demonstrated, and inheritance patterns as well as genetic counseling have been established. In this review, we summarize the data concerning clinical features frequently observed in Noonan syndrome, and then, we describe the molecular etiology as well as the physiopathology of most Noonan syndrome-causing genes. In the second part of this review, we assess the mutational rate of Noonan syndrome-causing genes reported up to now in most screening studies. This review should give clinicians as well as geneticists a full view of the molecular aspects of Noonan syndrome and the authentic prevalence of the mutational events of its causing-genes. It will also facilitate laying the groundwork for future molecular diagnosis research, and the development of novel treatment strategies.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: International Journal of Pediatrics and Adolescent Medicine - Volume 3, Issue 4, December 2016, Pages 133-142
Journal: International Journal of Pediatrics and Adolescent Medicine - Volume 3, Issue 4, December 2016, Pages 133-142
نویسندگان
Ihssane El Bouchikhi, Khadija Belhassan, Fatima Zohra Moufid, Mohammed Iraqui Houssaini, Laila Bouguenouch, Imane Samri, Samir Atmani, Karim Ouldim,