Publication: RASopatilerin moleküler genetik özellikleri
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2022-06-01
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Abstract
RASopatiler, RAS/MAPK yolağının bileşenlerini kodlayan genlerdeki patojenik değişimler sonucu ortaya çıkan ve ortak klinik özellikleri olan bir hastalık grubunu tanımlar. Noonan sendromu (NS) en sık görülen ve en bilinen RASopati olmakla birlikte, Noonan sendromu-multipl lentigines (NS-ML), kardiyofasiyokutanöz sendrom (KFKS), Costello sendromu (CS), nörofibromatozis tip 1 (NF1), Legius sendromu (LS) gibi sendromlar bu gruba dahil edilmektedir. Günümüzde RAS/MAPK yolağında RASopati veya Noonan spektrumu bozukluklara yol açan çok sayıda gen bildirilmiştir. Yeni nesil dizileme tekniklerindeki ilerlemeler ile de bu fenotipe yol açan pek çok yeni gen tanımlanmaktadır. Bu sendrom grubunu tanımlayan ortak bazı klinik özellikler olsa da genetik ve allelik heterojenite sınıflandırmayı zorlaştırmaktadır. Bu bölümde, RAS/MAPK yolağı ile RASopatilere yol açan farklı genlerin özellikleri ve bu hastalıklardaki genotip-fenotip ilişkisi anlatılmıştır.
RASopathies are a group of diseases with common clinical features caused by the pathogenic variants in genes encoding the RAS/MAPK pathway components. Although, Noonan syndrome (NS) is the most common type RASopathy, Noonan syndrome and multiple lentigines (NS-ML), Cardiofasciocutaneous syndrome (CFCS), Costello syndrome (CS), neurofibromatosis type 1 (NF1), Legius syndrome (LS) are also included in this group. Numerous genes have been reported as a cause of RASopathies or NS-related disorders in the RAS/MAPK pathway. Recent advances in next-generation sequencing techniques will lead to the discovery of new genes related to this phenotype. Although common clinical features define this group of syndromes, genetic and allelic heterogeneity makes classification difficult. Here we discuss, the role of the RAS/MAPK pathway in the development and maintaining homeostasis, the characteristics of different genes that cause RASopathies, and the genotype/phenotype relationship.
RASopathies are a group of diseases with common clinical features caused by the pathogenic variants in genes encoding the RAS/MAPK pathway components. Although, Noonan syndrome (NS) is the most common type RASopathy, Noonan syndrome and multiple lentigines (NS-ML), Cardiofasciocutaneous syndrome (CFCS), Costello syndrome (CS), neurofibromatosis type 1 (NF1), Legius syndrome (LS) are also included in this group. Numerous genes have been reported as a cause of RASopathies or NS-related disorders in the RAS/MAPK pathway. Recent advances in next-generation sequencing techniques will lead to the discovery of new genes related to this phenotype. Although common clinical features define this group of syndromes, genetic and allelic heterogeneity makes classification difficult. Here we discuss, the role of the RAS/MAPK pathway in the development and maintaining homeostasis, the characteristics of different genes that cause RASopathies, and the genotype/phenotype relationship.
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Tıp, Dahili Tıp Bilimleri, Çocuk Sağlığı ve Hastalıkları, Pediatrik Endokrinoloji ve Metabolizma, Sağlık Bilimleri, Medicine, Internal Medicine Sciences, Child Health and Diseases, Pediatric Endocrinology and Metabolism, Health Sciences, Klinik Tıp (MED), Klinik Tıp, PEDİATRİ, TIP, GENEL & DAHİLİ, Clinical Medicine (MED), CLINICAL MEDICINE, PEDIATRICS, MEDICINE, GENERAL & INTERNAL, Genel Sağlık Meslekleri, Pediatri, Patofizyoloji, Temel Bilgi ve Beceriler, Değerlendirme ve Teşhis, Pediatri, Perinatoloji ve Çocuk Sağlığı, Dahiliye, Aile Sağlığı, Tıp (çeşitli), Genel Tıp, General Health Professions, Pediatrics, Pathophysiology, Fundamentals and Skills, Assessment and Diagnosis, Pediatrics, Perinatology and Child Health, Internal Medicine, Family Practice, Medicine (miscellaneous), General Medicine, RAS/MAPK, RASopati, Noonan sendromu, kardiyofasiyokutanöz sendrom, Costello sendromu, RASopathies, Noonan syndrome, kardiofasciocutaneous syndrome, Costello syndrome
Citation
Yavaş Abalı Z., Demircioğlu S., "RASopatilerin Moleküler Genetik Özellikleri", Türkiye Klinikleri Pediatri Dergisi, cilt.1, sa.1, ss.14-24, 2022