Evaluation of the Impact of a PUS7 Gene Variant on Dental Development: A Rare Case Report
Molecular Syndromology, cilt.1, sa.1, ss.1-9, 2026 (Scopus)
- Yayın Türü: Makale / Vaka Takdimi
- Cilt numarası: 1 Sayı: 1
- Basım Tarihi: 2026
- Doi Numarası: 10.1159/000553115
- Dergi Adı: Molecular Syndromology
- Derginin Tarandığı İndeksler: Scopus, EMBASE
- Sayfa Sayıları: ss.1-9
- İstanbul Üniversitesi Adresli: Evet
Özet
Introduction: Pseudouridylation, the enzymatic isomerization of uridine to pseudouridine, is a widespread
posttranscriptional RNA modification that contributes to RNA stability and regulation of gene expression. The
PUS7 gene encodes pseudouridine synthase 7 (PUS7), and its biallelic pathogenic variants have been associated
with a syndromic neurodevelopmental disorder characterized by intellectual disability, microcephaly, behavioral
abnormalities, growth retardation, and facial dysmorphism. Recent data indicate that PUS7 interacts with SIRT1, a
key regulator of the Wnt/β-catenin signaling pathway, suggesting that PUS7 dysfunction may indirectly influence
odontogenesis. Case Presentation: We report a boy patient born to consanguineous parents, in whom exome
sequencing identified a novel homozygous truncating variant in PUS7 (NM_019042.5): c.1097_1098del
p.(Leu366Glnfs*7). Clinical assessment revealed neurodevelopmental delay, facial dysmorphism, and dental
anomalies. At 28 months of age, the mandibular primary lateral incisors (72 and 82) were absent, whereas the
mandibular central incisors exhibited a conical morphology. Conclusion: Although dental anomalies have been
reported in PUS7-related disorders, the abnormalities may be overlooked in children with neuromotor delay.
Conical teeth appear to be a more distinctive and clinically recognizable feature, as observed in our patient.
Further studies are needed to clarify the role of PUS7 variants in dental development and genotype – phenotype
correlations.