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Journals / İstanbul Tıp Fakültesi Dergisi / 2026 / Cilt: 88 Sayı: 3

THE PREVALENCE OF FRAGILE X SYNDROME IN INDIVIDUALS WITH AUTISM SPECTRUM DISORDER: GENETIC INSIGHTS AND DIAGNOSTIC CHALLENGES

OTİZM SPEKTRUM BOZUKLUĞU OLAN BİREYLERDE FRAGİLE X SENDROMU PREVALANSI: GENETİK BULGULAR VE TANISAL ZORLUKLAR

İrem Kalay(Ümraniye Training and Research Hospital, Medical Genetics Clinic)0000-0001-5873-7433
Çağrı Doğan(Ordu University, Faculty of Medicine, Department of Medical Genetics)0000-0001-5068-0380
Lamia Aliyeva Cavit(Acıbadem Mehmet Aydınlar University, Atakent Hospital, Medical Genetics Clinic)0000-0001-9436-9279
Abdullatif Bakır(Ankara Etlik City Hospital, Medical Genetics Clinic)0000-0002-3931-4168
Nihat Buğra Ağaoğlu(Ümraniye Training and Research Hospital, Medical Genetics Clinic)0000-0002-9336-0552
Pages
236–242
Publication Date
2025-07-31
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AI Summary & Key Takeaways

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

This study emphasises the significance of genetic testing for FXS in the context of autism, aiming to enhance interventions and provide accurate recurrence risk counseling for families affected by this prevalent condition.

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: Fragile X Syndrome (FXS) is a complex neurodevel opmental condition characterised by delayed language develop ment, dysmorphic features, and impaired cognitive development.
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Key Findings & Data:FXS, which results from CGG repeat expansion in the FMR1 gene, is the most commonly identified genetic cause of autism.
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Conclusion & Impact:This study emphasises the significance of genetic testing for FXS in the context of autism, aiming to enhance interventions and provide accurate recurrence risk counseling for families affected by this prevalent condition.
🔬Design:Araştırma Makalesi
📍Scope:Comprehensive Sample
⚙️Variables:Fragile X sendromu · otizm spektrum bozukluğu · FMR1 geni

Abstract

Objective: Fragile X Syndrome (FXS) is a complex neurodevel opmental condition characterised by delayed language develop ment, dysmorphic features, and impaired cognitive development. FXS, which results from CGG repeat expansion in the FMR1 gene, is the most commonly identified genetic cause of autism. Accu rate diagnosis of FXS is crucial for effective management and treatment. This study aimed to evaluate the prevalence of FXS in individuals with Autism Spectrum Disorder (ASD). Material and Methods: We conducted a retrospective study involv ing 50 patients. Comprehensive fragment analysis of the FMR1 gene was performed, with repeat sequences classified according to the stringent guidelines established by American College of Medical Genetics and Genomics (ACMG), Clinical Molecular Genetics Society (CMGS) ve European Society of Human Genetics (ESHG). Results: FXS was identified in three individuals (6%) within the study cohort. This finding aligns with previous reports indicating prevalence rates between 2% and 8% among ASD populations, thereby confirming the significance of our results. Conclusion: The overlapping symptoms of FXS and idiopathic autism present diagnostic challenges, highlighting the importance of identifying FXS to implement targeted therapies. Family history is critical in identifying at risk individuals, as FXS can lead to varied manifestations in family members, including ataxia and early menopause. Although this study provides valuable insights, the limited sample size underscores the need for larger scale research. Advanced genetic investigations and comprehensive panels could further aid in identifying additional causes of autism. This study emphasises the significance of genetic testing for FXS in the context of autism, aiming to enhance interventions and provide accurate recurrence risk counseling for families affected by this prevalent condition.

Özet

Amaç: Fragile X sendromu (FXS), gecikmiş dil gelişimi, dismorfik özellikler ve zihinsel gelişimin bozulması ile karakterize karmaşık bir nörogelişimsel durumdur. FMR1 genindeki CGG tekrar genişlemesi sonucu ortaya çıkan FXS, otizmin en sık belirlenen genetik nedenidir. FXS’ nin doğru tanısı, etkili yönetim ve tedavi için büyük önem taşımaktadır. Bu çalışma, otizmli bireylerde FXS prevalansını değerlendirmeyi amaçlamaktadır. Gereç ve Yöntemler: Bu çalışmada 50 hasta üzerinde yapılan fragman analizi ile FMR1 genindeki CGG tekrar uzunlukları değerlendirildi. Elde edilen sonuçlar, tekrarlayan bölgelerin American College of Medical Genetics and Genomics (ACMG), Clinical Mole cular Genetics Society (CMGS) ve European Society of Human Genetics (ESHG) kılavuzlarına uygun olarak sınıflandırılmasıyla yorumlandı. Bulgular: Literatürde yer alan destekleyici çalışmalar da FXS ile otizm arasındaki bağlantıyı vurgulamaktadır. Çalışma kohortunda üç bireyde (%6) FXS tespit edilmiştir. Bu bulgu, otizm spektrum bozukluğu popülasyonlarında %2 ile %8 arasında değişen prevalans oranlarını bildiren önceki çalışmalarla uyumlu olup, elde edilen sonuçların önemini doğrulamaktadır. Sonuç: FXS ile idiopatik otizmin örtüşen semptomları tanısal zorluklar yaratmakta olup, hedefe yönelik tedavilerin uygulanabilmesi için FXS’ nin belirlenmesi büyük önem taşımaktadır. Aile öyküsü, risk altındaki bireylerin tanımlanmasında kritik bir rol oynamaktadır. FXS, aile bireylerinde ataksi ve erken menopoz gibi farklı klinik belirtilere yol açabilmektedir. Otizmin genetik etiyolojisinin belirlenmesinde altın standart tekniklerden FMR1 fragman analizi ile FXS ekartasyonu sonrası kapsamlı genetik paneller, otizmin ek nedenlerinin belirlenmesine katkı sağlamaktadır. Bu çalışma, otizm bağlamında FXS için genetik testlerin önemini vurgulamakta, müdahaleleri iyileştirmeyi ve etkilenen ailelere doğru tekrar risk danışmanlığı sağlamayı hedeflemektedir.

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Cite This Article

Kalay, İ., Doğan, Ç., Cavit, L. A., Bakır, A., Ağaoğlu, N. B. (2025). THE PREVALENCE OF FRAGILE X SYNDROME IN INDIVIDUALS WITH AUTISM SPECTRUM DISORDER: GENETIC INSIGHTS AND DIAGNOSTIC CHALLENGES. İstanbul Tıp Fakültesi Dergisi, Cilt: 88 Sayı: 3, 236–242. https://doi.org/10.26650/IUITFD.1636301

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