A Recurrent c.416C>T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum
Molecular Syndromology, cilt.15, sa.5, ss.409-420, 2024 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 15 Sayı: 5
- Basım Tarihi: 2024
- Doi Numarası: 10.1159/000537869
- Dergi Adı: Molecular Syndromology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.409-420
- Anahtar Kelimeler: B3GAT3, Linkeropathy, Kyphoscoliosis, Aortic root dilatation, Radio-ulnar synostosis
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Introduction: Linkeropathies are a group of rare multisystemic genetic disorders primarily affecting the skeletal and cardiac systems due to defects in the enzymes responsible for proteoglycan synthesis. Case Presentation: We present a case of two siblings with the B3GAT3 variant. The 14-year-old boy exhibited short stature, severe kyphoscoliosis, splenomegaly, and aortic root dilatation, along with several physical abnormalities including bifid uvula, blue sclera, limited elbow extension, and pectus carinatum. His 6-year-old sister also exhibited comparable yet less pronounced physical features. Clinical exome sequencing analysis revealed a homozygous c.416C>T variant in the B3GAT3 gene for the sister; the same variant was also present in the boy patient. The boy underwent preoperative halo-gravity traction for severe kyphoscoliosis, followed by posterior instrumentation and fusion surgery without complications. Discussion/Conclusion: B3GAT3-related linkeropathy syndrome is a rare disorder and we further expand the clinical spectrum with novel findings.