Otizm Spektrum Bozukluğu ile FOXP2, GRIN2B, KATNAL2 ve GABRA4 Genlerinin İlişkisinin Araştırılması

Amaç: Otizm spektrum bozukluğu genetik ve fenotipik olarak heterojenbir gruptur. Bugüne kadar yapılan genetik araştırmalar, bu hastalığınetiyolojisinde hem yaygın hem de nadir genetik varyantların roloynadığını ileri sürmüştür. Çalışmamızda FOXP2, GRIN2B, KATNAL2 veGABRA4 genlerinin otizm spektrum bozukluğunun patogenezindekirolünü araştırmayı amaçladık.Yöntem: Prospektif olarak planlanan çalışmamızda, otizm spektrumbozukluğu tanısı alan 96 hastada FOXP2, GRIN2B, KATNAL2 ve GABRA4genlerinin tüm ekzonları, ekzon-intron bileşke bölgeleri, yeni nesil dizianalizi yöntemi ile dizilendi.Bulgular: Çalışmamızda ortalama yaş 10.1 ve erkek/kadın oranı 75/21idi. FOXP2, GRIN2B, KATNAL2 ve GABRA4 genlerinde patojenik, olasıpatojenik varyantlar saptanmazken, 50 olguda (%52) klinik önemibilinmeyen 69 intronik varyant tespit edildi. Bunlar arasında 26’sıGABRA4 geninde, 22’si FOXP2 geninde, 13’ü KATNAL2 geninde ve 8’iGRIN2B genindeydi. Bu 69 varyantın yirmi üçü, daha önce literatürderapor edilmeyen, novel varyantlardı.Sonuç: Çalışmamızda, otizm spektrum bozukluğu ile FOXP2, GRIN2B,KATNAL2 ve GABRA4 genleri arasında anlamlı bir ilişki saptamadık.Otizm spektrum bozukluğunun etiyopatogenezinde rol oynayan genetikrisk faktörlerinin belirlenmesi, hastalığın moleküler mekanizmalarınınanlaşılmasına ve yeni tedavi stratejilerinin geliştirilmesine önemli katkısağlayacaktır. Bu bağlamda, farklı popülasyonlarda daha fazla olgu iletüm ekzom veya tüm genom dizileme gibi kapsamlı moleküler genetikçalışmalara ihtiyaç bulunmaktadır.

Anahtar Kelime:

Investigation of the Relationship between Autism Spectrum Disorder and FOXP2, GRIN2B, KATNAL2 and GABRA4 Genes

Öz:

Introduction: Autism spectrum disorder is a genetically and phenotypically heterogeneous group. Genetic studies carried out to date have suggested that both common and rare genetic variants play a role in the etiology of this disorder. In our study, we aimed to investigate the effect of FOXP2, GRIN2B, KATNAL2 and GABRA4 gene variants in the pathogenesis of autism spectrum disorder. Method: In our prospectively planned study, all exons and exonintron junctions of FOXP2, GRIN2B, KATNAL2 and GABRA4 genes were screened by next generation sequencing analysis in 96 patients who diagnosed with autism spectrum disorder. Results: In our study, the average age was 10.1 and the male/female ratio was 75/21. Pathogenic or likely pathogenic variants were not detected in FOXP2, GRIN2B, KATNAL2 and GABRA4 genes, however, 69 intronic variants of unknown clinical significance were detected in 50 cases (52%). Among those, 26 were in the GABRA4 gene, 22 in the FOXP2 gene, 13 in the KATNAL2 gene, and 8 in the GRIN2B gene. Twenty three of these 69 variants were novel that were not previously reported in the literature. Conclusion: In our study, we could not identify a relationship between the autism spectrum disorder and FOXP2, GRIN2B, KATNAL2 and GABRA4 genes. Identifying genetic risk factors that play a role in the etiopathogenesis of autism spectrum disorder will contribute significantly to understanding the molecular mechanisms of the disease and the development of new treatment strategies. In this context, comprehensive molecular genetic studies such as whole exome or whole genome sequencing are required with higher number of cases in different populations.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

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APA	YALCINTEPE S, Gorker I, Demir S, atli e, ATLI E, TOZKIR H, Süt N, OZEN Y, EKER D, Mail C, SEZGİNER GÜLER H, ZHURI D, Gürkan H (2021). Otizm Spektrum Bozukluğu ile FOXP2, GRIN2B, KATNAL2 ve GABRA4 Genlerinin İlişkisinin Araştırılması. , 171 - 175. 10.29399/npa.27407
Chicago	YALCINTEPE Sinem,Gorker Isik,Demir Selma,atli emine ikbal,ATLI ENGIN,TOZKIR HILMI,Süt Necdet,OZEN YASEMİN,EKER DAMLA,Mail Cisem,SEZGİNER GÜLER HAZAL,ZHURI DRENUSHE,Gürkan Hakan Otizm Spektrum Bozukluğu ile FOXP2, GRIN2B, KATNAL2 ve GABRA4 Genlerinin İlişkisinin Araştırılması. (2021): 171 - 175. 10.29399/npa.27407
MLA	YALCINTEPE Sinem,Gorker Isik,Demir Selma,atli emine ikbal,ATLI ENGIN,TOZKIR HILMI,Süt Necdet,OZEN YASEMİN,EKER DAMLA,Mail Cisem,SEZGİNER GÜLER HAZAL,ZHURI DRENUSHE,Gürkan Hakan Otizm Spektrum Bozukluğu ile FOXP2, GRIN2B, KATNAL2 ve GABRA4 Genlerinin İlişkisinin Araştırılması. , 2021, ss.171 - 175. 10.29399/npa.27407
AMA	YALCINTEPE S,Gorker I,Demir S,atli e,ATLI E,TOZKIR H,Süt N,OZEN Y,EKER D,Mail C,SEZGİNER GÜLER H,ZHURI D,Gürkan H Otizm Spektrum Bozukluğu ile FOXP2, GRIN2B, KATNAL2 ve GABRA4 Genlerinin İlişkisinin Araştırılması. . 2021; 171 - 175. 10.29399/npa.27407
Vancouver	YALCINTEPE S,Gorker I,Demir S,atli e,ATLI E,TOZKIR H,Süt N,OZEN Y,EKER D,Mail C,SEZGİNER GÜLER H,ZHURI D,Gürkan H Otizm Spektrum Bozukluğu ile FOXP2, GRIN2B, KATNAL2 ve GABRA4 Genlerinin İlişkisinin Araştırılması. . 2021; 171 - 175. 10.29399/npa.27407
IEEE	YALCINTEPE S,Gorker I,Demir S,atli e,ATLI E,TOZKIR H,Süt N,OZEN Y,EKER D,Mail C,SEZGİNER GÜLER H,ZHURI D,Gürkan H "Otizm Spektrum Bozukluğu ile FOXP2, GRIN2B, KATNAL2 ve GABRA4 Genlerinin İlişkisinin Araştırılması." , ss.171 - 175, 2021. 10.29399/npa.27407
ISNAD	YALCINTEPE, Sinem vd. "Otizm Spektrum Bozukluğu ile FOXP2, GRIN2B, KATNAL2 ve GABRA4 Genlerinin İlişkisinin Araştırılması". (2021), 171-175. https://doi.org/10.29399/npa.27407

APA	YALCINTEPE S, Gorker I, Demir S, atli e, ATLI E, TOZKIR H, Süt N, OZEN Y, EKER D, Mail C, SEZGİNER GÜLER H, ZHURI D, Gürkan H (2021). Otizm Spektrum Bozukluğu ile FOXP2, GRIN2B, KATNAL2 ve GABRA4 Genlerinin İlişkisinin Araştırılması. Nöropsikiyatri Arşivi, 58(3), 171 - 175. 10.29399/npa.27407
Chicago	YALCINTEPE Sinem,Gorker Isik,Demir Selma,atli emine ikbal,ATLI ENGIN,TOZKIR HILMI,Süt Necdet,OZEN YASEMİN,EKER DAMLA,Mail Cisem,SEZGİNER GÜLER HAZAL,ZHURI DRENUSHE,Gürkan Hakan Otizm Spektrum Bozukluğu ile FOXP2, GRIN2B, KATNAL2 ve GABRA4 Genlerinin İlişkisinin Araştırılması. Nöropsikiyatri Arşivi 58, no.3 (2021): 171 - 175. 10.29399/npa.27407
MLA	YALCINTEPE Sinem,Gorker Isik,Demir Selma,atli emine ikbal,ATLI ENGIN,TOZKIR HILMI,Süt Necdet,OZEN YASEMİN,EKER DAMLA,Mail Cisem,SEZGİNER GÜLER HAZAL,ZHURI DRENUSHE,Gürkan Hakan Otizm Spektrum Bozukluğu ile FOXP2, GRIN2B, KATNAL2 ve GABRA4 Genlerinin İlişkisinin Araştırılması. Nöropsikiyatri Arşivi, vol.58, no.3, 2021, ss.171 - 175. 10.29399/npa.27407
AMA	YALCINTEPE S,Gorker I,Demir S,atli e,ATLI E,TOZKIR H,Süt N,OZEN Y,EKER D,Mail C,SEZGİNER GÜLER H,ZHURI D,Gürkan H Otizm Spektrum Bozukluğu ile FOXP2, GRIN2B, KATNAL2 ve GABRA4 Genlerinin İlişkisinin Araştırılması. Nöropsikiyatri Arşivi. 2021; 58(3): 171 - 175. 10.29399/npa.27407
Vancouver	YALCINTEPE S,Gorker I,Demir S,atli e,ATLI E,TOZKIR H,Süt N,OZEN Y,EKER D,Mail C,SEZGİNER GÜLER H,ZHURI D,Gürkan H Otizm Spektrum Bozukluğu ile FOXP2, GRIN2B, KATNAL2 ve GABRA4 Genlerinin İlişkisinin Araştırılması. Nöropsikiyatri Arşivi. 2021; 58(3): 171 - 175. 10.29399/npa.27407
IEEE	YALCINTEPE S,Gorker I,Demir S,atli e,ATLI E,TOZKIR H,Süt N,OZEN Y,EKER D,Mail C,SEZGİNER GÜLER H,ZHURI D,Gürkan H "Otizm Spektrum Bozukluğu ile FOXP2, GRIN2B, KATNAL2 ve GABRA4 Genlerinin İlişkisinin Araştırılması." Nöropsikiyatri Arşivi, 58, ss.171 - 175, 2021. 10.29399/npa.27407
ISNAD	YALCINTEPE, Sinem vd. "Otizm Spektrum Bozukluğu ile FOXP2, GRIN2B, KATNAL2 ve GABRA4 Genlerinin İlişkisinin Araştırılması". Nöropsikiyatri Arşivi 58/3 (2021), 171-175. https://doi.org/10.29399/npa.27407