A Rare Pathogenic Frameshift Mutation in NSD1 Gene Related to Sotos Syndrome in a Turkish Patient

TOKGUN, Pervin Elvan; YUKSEL, SELCUK; Karagenc, Nedim

doi:10.5505/deutfd.2021.82788

A Rare Pathogenic Frameshift Mutation in NSD1 Gene Related to Sotos Syndrome in a Turkish Patient

Nedim KARAGENÇ, (Pamukkale üniversitesi Tıp Fakültesi Tıbbi Genetik Anabilim Dalı, Denizli, Türkiye)

Selçuk YÜKSEL, (Pamukkale üniversitesi Tıp Fakültesi Pediatri Anabilim Dalı, Denizli, Türkiye)

Pervin Elvan TOKGÜN (Pamukkale üniversitesi Tıp Fakültesi Tıbbi Genetik Anabilim Dalı, Denizli, Türkiye)

Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi

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Yıl: 2021 Cilt: 35 Sayı: 2 Sayfa Aralığı: 239 - 244 Metin Dili: İngilizce DOI: 10.5505/deutfd.2021.82788 İndeks Tarihi: 18-05-2022

A Rare Pathogenic Frameshift Mutation in NSD1 Gene Related to Sotos Syndrome in a Turkish Patient

Öz:

Sotos syndrome which autosomal dominant inheritance has been observed, caused by the mutations and deletions in NSD1 gene. NSD1 gene consists 23 exons and localizes on chromosome 5q35.3. The prevalance of the Sotos syndrome is 1:14000 live births and the disease is characterized by excessive growth resulting in tall stature, a characteristical face appearance, advanced bone age, n eurological disorder with intellectual disability and etc. Over 90% of the patients represent overgrowth, learning disability and macrocephaly. It has been shown that NSD1 gene mutations and microdeletions in 5q35.3 were common cause of Sotos syndrome. In this study we describe a 4 years old boy with Sotos syndrome harbouring a pathogenic NSD1 frameshift mutation. Clinical exome sequencing was performed using 2 ml of peripheral blood sample of the patient. The high-throughput data was analyzed using SOPHIA DDM database. The pathogenity of the mutations were evaluated based on in silico prediction tools (ClinVar, SIFT, Polyphen2, MutationTaster).We detected a pathogenic frameshift variant in NSD1 gene, 2386_2389delGAAA by clinical exome sequencing. Although the diagnosis of Sotos syndrome can be made clinically, molecular analyzes are also important in diagnosis. Numerious NSD1 gene mutations and deletions have been identified to date. However, 2386_2389delGAAA pathogenic variant in the NSD1 gene associated with Sotos syndrome will be reported for the first time in Turkey.

Anahtar Kelime:

SOTOS SENDROMLU BİR TÜRK HASTADA NSD1 GENİNDE NADİR PATOJENİK ÇERÇEVE KAYMASI MUTASYONU

Öz:

NSD1 genindeki mutasyonlar ve delesyonlar Otozomal dominant kalıtım görülen Sotos sendromuna neden olmaktadır. Kromozom 5q35.3 bölgesinde lokalize olan NSD1 geni 23 eksondan oluşmaktadır. Sotos sendromunun prevalansı 14000 canlı doğumda bir olmakla birlikte, hastalık anormal büyüme, ileri kemik yaşı, entelektüel yeti yitiminin eşlik ettiği nörolojik bozukluklar, vb. ile karakterizedir. Sotos sendromlu bireylerin %90’nda karakteristik yüz görünümü, öğrenme güçlüğü, uzun boy ve makrosefali görülmektedir. Yapılan çalışmalarda NSD1 gen mutasyonları ve 5q35.3 bölgesindeki delesyonlarının Sotos sendromuna neden olduğu gösterilmiştir. Bu çalışmada Sotos sendromlu 4 yaşındaki bir erkek çocukta yeni nesil dizileme yöntemi ile NSD1 geninde patojenik çerçeve kayması mutasyonu saptanmıştır. Hastadan alınan 2 ml kan örneği kullanılarak klinik ekzom dizileme işlemi gerçekleştirilmiştir. SOPHIA DDM veritabanı kullanılarak data analizi yapılmıştır. Mutasyonların patojenitesi in siliko algoritmalar kullanılarak (ClinVar, SIFT, Polyphen2, MutationTaster) değerlendirilmiştir. NSD1 geninde patojenik çerçeve kayması mutasyonu (2386_2389delGAAA) saptanmıştır. Sotos sendromunun tanısı klinik olarak konulabilmekle birlikte moleküler analizlerin de tanı da önemi büyüktür. Günümüze kadar pekçok NSD1 gen mutasyonu ve delesyonu tanımlanmıştır. Ancak, Sotos sendromu ile ilişkili NSD1 geninde saptadığımız 2386_2389delGAAA patojenik varyantı Türkiye’deki ilk kez rapor edilecektir.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık

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APA	Karagenc N, YUKSEL S, TOKGUN P (2021). A Rare Pathogenic Frameshift Mutation in NSD1 Gene Related to Sotos Syndrome in a Turkish Patient. , 239 - 244. 10.5505/deutfd.2021.82788
Chicago	Karagenc Nedim,YUKSEL SELCUK,TOKGUN Pervin Elvan A Rare Pathogenic Frameshift Mutation in NSD1 Gene Related to Sotos Syndrome in a Turkish Patient. (2021): 239 - 244. 10.5505/deutfd.2021.82788
MLA	Karagenc Nedim,YUKSEL SELCUK,TOKGUN Pervin Elvan A Rare Pathogenic Frameshift Mutation in NSD1 Gene Related to Sotos Syndrome in a Turkish Patient. , 2021, ss.239 - 244. 10.5505/deutfd.2021.82788
AMA	Karagenc N,YUKSEL S,TOKGUN P A Rare Pathogenic Frameshift Mutation in NSD1 Gene Related to Sotos Syndrome in a Turkish Patient. . 2021; 239 - 244. 10.5505/deutfd.2021.82788
Vancouver	Karagenc N,YUKSEL S,TOKGUN P A Rare Pathogenic Frameshift Mutation in NSD1 Gene Related to Sotos Syndrome in a Turkish Patient. . 2021; 239 - 244. 10.5505/deutfd.2021.82788
IEEE	Karagenc N,YUKSEL S,TOKGUN P "A Rare Pathogenic Frameshift Mutation in NSD1 Gene Related to Sotos Syndrome in a Turkish Patient." , ss.239 - 244, 2021. 10.5505/deutfd.2021.82788
ISNAD	Karagenc, Nedim vd. "A Rare Pathogenic Frameshift Mutation in NSD1 Gene Related to Sotos Syndrome in a Turkish Patient". (2021), 239-244. https://doi.org/10.5505/deutfd.2021.82788

APA	Karagenc N, YUKSEL S, TOKGUN P (2021). A Rare Pathogenic Frameshift Mutation in NSD1 Gene Related to Sotos Syndrome in a Turkish Patient. Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi, 35(2), 239 - 244. 10.5505/deutfd.2021.82788
Chicago	Karagenc Nedim,YUKSEL SELCUK,TOKGUN Pervin Elvan A Rare Pathogenic Frameshift Mutation in NSD1 Gene Related to Sotos Syndrome in a Turkish Patient. Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi 35, no.2 (2021): 239 - 244. 10.5505/deutfd.2021.82788
MLA	Karagenc Nedim,YUKSEL SELCUK,TOKGUN Pervin Elvan A Rare Pathogenic Frameshift Mutation in NSD1 Gene Related to Sotos Syndrome in a Turkish Patient. Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi, vol.35, no.2, 2021, ss.239 - 244. 10.5505/deutfd.2021.82788
AMA	Karagenc N,YUKSEL S,TOKGUN P A Rare Pathogenic Frameshift Mutation in NSD1 Gene Related to Sotos Syndrome in a Turkish Patient. Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi. 2021; 35(2): 239 - 244. 10.5505/deutfd.2021.82788
Vancouver	Karagenc N,YUKSEL S,TOKGUN P A Rare Pathogenic Frameshift Mutation in NSD1 Gene Related to Sotos Syndrome in a Turkish Patient. Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi. 2021; 35(2): 239 - 244. 10.5505/deutfd.2021.82788
IEEE	Karagenc N,YUKSEL S,TOKGUN P "A Rare Pathogenic Frameshift Mutation in NSD1 Gene Related to Sotos Syndrome in a Turkish Patient." Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi, 35, ss.239 - 244, 2021. 10.5505/deutfd.2021.82788
ISNAD	Karagenc, Nedim vd. "A Rare Pathogenic Frameshift Mutation in NSD1 Gene Related to Sotos Syndrome in a Turkish Patient". Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi 35/2 (2021), 239-244. https://doi.org/10.5505/deutfd.2021.82788