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Journals / Acta Medica Alanya / 2021 / Cilt: 5 - Sayı: 2

Copy Number Variation Analysis in Turkish Patients with Congenital Bilateral Absence of Vas Deferens

Konjenital Bilateral Vas Deferens Yokluğu Olan Türk Hastalarda Genomik Kopya Sayısı Varyasyonları Analizi

Özgül M. ALPER
Yiğit AKIN
Semra KAHRAMAN
Mustafa Faruk USTA
Mehmet Murad BAŞAR
Elanur YILMAZ
Durkadın DEMİR EKŞİ
Munire ERMAN
Pages
181–189
Publication Date
2022-09-04
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Further studies are needed to indentify the contribution ofCNVs and DAD1 gene to CBAVD etiology.

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: Congenital Bilateral Absence of the Vas Deferens (CBAVD) is adevelopmental abnormality that causes infertility in males.
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Key Findings & Data:According to theliterature, up to 88% of CBAVD cases have at least one pathogenic Cystic FibrosisTransmembrane Conductance Regulator gene (CFTR) mutation.
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Conclusion & Impact:Further studies are needed to indentify the contribution ofCNVs and DAD1 gene to CBAVD etiology.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Objective: Congenital Bilateral Absence of the Vas Deferens (CBAVD) is adevelopmental abnormality that causes infertility in males. According to theliterature, up to 88% of CBAVD cases have at least one pathogenic Cystic FibrosisTransmembrane Conductance Regulator gene (CFTR) mutation. However, based onour previous data, this rate was 15.90% in Turkish patients with CBAVD. We aimedto identify genomic copy number variations (CNV) and candidate genomic regionswhich could related to the CBAVD in Turkish population.Methods: CNV analysis was performed in 19 Turkish CBAVD patients normalkaryotypes and a wild type CFTR genotype. We suggested that the DAD1 gene maybe a candidate gene related to CBAVD by reviewing online databases and analyzingCNV findings. Sanger sequencing of the DAD1 gene exons was performed in 22patients.Results: We identified 11 CNVs that most likely related with the disease in nine of19 (47.3%) patients. As the most common CNV, 14q11.2 deletions were detected inthere (15.79%) of the patients. There was only DAD1 gene in the sharing genomicregion of two of the 14q11.2 deletions. No sequence variation was detected in theDAD1 gene of the patients.Conclusion: The 14q11.2 chromosomal region and the DAD1 gene may beassociated with CBAVD. Further studies are needed to indentify the contribution ofCNVs and DAD1 gene to CBAVD etiology.

Özet

Amaç: Konjenital Bilateral Vas Deferens Yokluğu (CBAVD), erkeklerde infertiliteye yol açan gelişimsel bir anomalidir. Literatüre göre CBAVD’li olguların %88’e kadarı en az bir Kistik Fibrozis Transmembran Regülatör geni (CFTR) mutasyonuna sahiptir. Ancak, daha önceki verilerimize göre CBAVD’li Türk hastalarda bu oran %15.90’dır. Çalışmamız kapsamında Türk popülasyonundaki CBAVD ile ilişkili olabilecek genomik kopya sayısı varyasyonları (CNV) ve aday genomik bölgelerin tanımlanması amaçlanmıştır.Yöntemler: Normal karyotipe ve yabanıl tip CFTR genotipine sahip 19 Türk CBAVD’li hastanın CNV analizi gerçekleştirildi. CNV bulgularımızın analizi ve veritabanlarının taranması ile DAD1 geni CBAVD ile ilişkili olabilecek potansiyel aday gen olarak tanımlandı. 22 CBAVD’li hastada da DAD1 geni ekzonlarının dizi analizi Sanger dizileme metoduyla yapıldı.Bulgular: 19 hastanın dokuzunda (%47.3) hastalıkla ilişkili olabilecek 11 adet CNV saptandı. En sık saptanan CNV olarak 14q11.2 delesyonu, hastaların üçünde (%15.79) belirlendi. 14q11.2 delesyonlarından ikisinin ortak varyant bölgesinde yalnızca DAD1 geni lokalize idi. Dizi analizi ile, hastaların DAD1 geninde herhangi bir dizi varyasyonu saptanmadı.Sonuç: 14q11.2 kromozomal bölgesi ve DAD1 geni CBAVD ile ilişkili olabilir. CNVlerin ve DAD1 geninin CBAVD etiyolojisine katkısını tanımlamak için ileri çalışmalar gerekmektedir.

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Cite This Article

ALPER, Ö. M., AKIN, Y., KAHRAMAN, S., USTA, M. F., BAŞAR, M. M., YILMAZ, E., EKŞİ, D. D., ERMAN, M. (2022). Copy Number Variation Analysis in Turkish Patients with Congenital Bilateral Absence of Vas Deferens. Acta Medica Alanya, Cilt: 5 - Sayı: 2, 181–189. https://ajindex.com/articles/425781

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