Nadir Hastalıklarda WES Analizi ile Saptanan Genetik Varyantlar

Yeni nesil dizileme testleri, tıbbın çoğu alanında tanı sürecinin bir parçası haline gelmiştir. Özellikle tüm ekzom dizileme (WES) çalışmaları ile nadir kalıtsal hastalıklarda tanı oranı artmıştır. Bu çalışmada, hastalıklarının genetik kökenli olduğundan şüphelenilen 65 olgunun sonuçlarını klinik bulguları ile birlikte sunmayı amaçladık. Bursa Yüksek İhtisas Eğitim ve Araştırma Hastanesi Tıbbi Genetik Birimi'nde, 2016-2019 yılları arasında WES testi ile değerlendirilen hastalar retrospektif olarak taranarak analiz sonuçları ve klinik bulguları ile birlikte çalışmaya dahil edildi. Çalışmaya dahil edilen 65 olgunun 27'sinde (% 41.5) klinik bulgularıyla ilişkili 30 anlamlı varyant bulundu. Bu varyantların 20'si (% 66.7) daha önce literatürde bildirilmemişti. Fetustan 66 yaşına kadar geniş bir yaş aralığındaki hastalarda görülen nadir hastalıklar klinik bulguları ve WES sonuçları ile birlikte sunulmuştur. Sonuç olarak bu çalışma ile kalıtsal hastalıkların mutasyon spektrumuna katkıda bulunulmuştur.

Anahtar Kelimeler:

Yeni nesil dizileme, novel, nadir hastalık, tüm ekzom dizileme

Genetic variants in rare diseases identified by WES analysis

Next-generation sequencing tests have become a part of the diagnostic process in most fields of medicine. Especially with whole-exome sequencing (WES) studies, the rate of diagnosis has increased in rare hereditary diseases. In this study, we aimed to present the results together with the clinical findings of 65 cases whose diseases are suspected to be of genetic origin. Between 2016 and 2019, patients who underwent WES testing in Bursa Yüksek İhtisas Training and Research Hospital Medical Genetics Unit were retrospectively screened and included in the study with their analysis results and clinical findings. In 27 of the 65 cases (41.5 %) included in the study, 30 significant variants were found in relation to their clinical findings. Twenty of these variants (66.7 %) have not been previously reported in literature. Rare diseases encountered in patients within a wide age range, from the fetus to 66 years of age, are presented along with their clinical findings and WES results. Thus, this study contributes to the mutation spectrum of hereditary diseases.

Keywords:

Next generation sequencing, novel, rare disease, whole-exome sequencing,

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