Makale detayı · 2025
Two Unrelated Witteveen-Kolk Syndrome Patients Presenting with Unusual Clinical Features: Dual Diagnosis and Atypical Rare Manifestation
- Yıl
- 2025
- Tür
- article
Veri kaynağı ayrımı
- YÖKSİS YÖKSİS makale kaydı
- YÖKSİS dergi adı Molecular Syndromology
- Katalog eşleşmesi (ISSN) Molecular Syndromology
- OpenAlex OpenAlex zenginleştirmesi (özet, atıf, konular)
Özet
İngilizce (OpenAlex)
Introduction: Witteveen-Kolk syndrome (WITKOS, OMIM 613406) is a rare autosomal dominant neurodevelopmental disorder caused by heterozygous loss-of-function variants in the SIN3A gene or microdeletions involving SIN3A at 15q24. We aimed to present new clinical and genetic findings of 2 patients diagnosed with WITKOS. Case Presentation: This study presents 2 cases: patient 1 had genomic variations caused by a multilocus disease, including pathogenic variations in the SIN3A gene and paternal mosaic uniparental disomy 11 (UPD(11)p), and showed syndromic symptoms. Patient 2 was followed up with a preliminary diagnosis of hypogonadotropic hypogonadism (HH) and a new de novo pathogenic variation in the SIN3A gene. Conclusions: These findings expand the phenotypic spectrum associated with SIN3A variants and highlight the importance of comprehensive genetic testing in atypical presentations of rare diseases. The inclusion of SIN3A in HH gene panels may aid molecular diagnosis in cases without apparent syndromic findings. This study contributes to the understanding of the phenotypic and genotypic heterogeneity of WITKOS.
Konular
- Skin and Cellular Biology Research
- dental development and anomalies
- Esophageal and GI Pathology
Birincil konu Skin and Cellular Biology Research