Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum
This report presents the largest Turkish WDSTS cohort to date, expands the known <i>KMT2A</i> variant spectrum with nine novel alleles, and highlights several underreported clinical features. Beyond its immediate clinical relevance, the study further supports <i>KMT2A</i> as a key chromatin regulator and an "umbrella gene" within the chromatinopathy spectrum. Growing recognition of these disorders underscores the need for systematic, multidisciplinary surveillance and contributes to the expanding global understanding of their shared pathogenic mechanisms.
Authors
- Zehra Manav Yiğit (ORCID: https://orcid.org/0000-0002-9505-0371)
- Ahmet Anık (ORCID: https://orcid.org/0000-0002-7729-7872)
- Elif Söbü
- Aydeniz Aydın Gümüş (ORCID: https://orcid.org/0000-0002-5879-6385)
- Eyyüp Üçtepe (ORCID: https://orcid.org/0000-0002-1820-9094)
- Gül Ünsel‐Bolat (ORCID: https://orcid.org/0000-0002-4574-421X)
- Elif Yılmaz Güleç (ORCID: https://orcid.org/0000-0003-0872-3898)
- Gülsüm Kayhan (ORCID: https://orcid.org/0000-0002-4286-243X)
- Hilmi Bolat (ORCID: https://orcid.org/0000-0001-6574-8149)
- Elvin Kazancıoğlu (ORCID: https://orcid.org/0000-0002-7603-6558)
- Ayberk Türkyılmaz (ORCID: https://orcid.org/0000-0001-9647-8970)
- Alper Han Çebi (ORCID: https://orcid.org/0000-0001-7388-874X)
- Esra Arslan Ateş (ORCID: https://orcid.org/0000-0001-5552-8134)
- İbrahim Kamer (ORCID: https://orcid.org/0000-0001-9713-626X)
- Selim Çetin (ORCID: https://orcid.org/0000-0002-9017-1465)
- Kübra Ateş (ORCID: https://orcid.org/0000-0002-0669-8230)
- Aydan Mengübaş Erbaş
- Bülent Uyanık (ORCID: https://orcid.org/0000-0002-1714-3740)
- Gökay Bozkurt (ORCID: https://orcid.org/0000-0002-6963-3186)
- Müge Ayanoğlu (ORCID: https://orcid.org/0000-0002-0556-1435)
- İsmihan Merve Tekin (ORCID: https://orcid.org/0000-0001-9487-8954)
- Sahra Acır (ORCID: https://orcid.org/0009-0007-8251-9277)
- Ahmet Yeşilyurt (ORCID: https://orcid.org/0000-0003-1289-7833)
Institutions
- Üsküdar University (TR)
- University of Turku (FI)
- Karadeniz Technical University (TR)
- American Academy of Child and Adolescent Psychiatry (US)
- Bezmiâlem Vakıf Üniversitesi (TR)
- Istanbul University-Cerrahpaşa (TR)
- Sakarya Eğitim ve Araştırma Hastanesi (TR)
- Ankara Spine Center (TR)
- Education Training And Research (US)
- Intergen (Turkey) (TR)
- Turkish Society of Cardiology (TR)
- Istanbul Medeniyet University (TR)
- Adnan Menderes University (TR)
- University of Health Sciences Antigua (AG)
- Gazi University (TR)
Publication Details
- Journal
- Balkan Medical Journal
- Published
- 2025-11-27
- DOI
- https://doi.org/10.4274/balkanmedj.galenos.2025.2025-9-81
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00