Sandestig-Stefanova Syndrome: A Case Report Highlighting an Expanded Phenotypic Spectrum and a Novel Homozygous <i>NUP188</i> Variant
MOLECULAR SYNDROMOLOGY, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Basım Tarihi: 2026
- Doi Numarası: 10.1159/msy/adrag002
- Dergi Adı: MOLECULAR SYNDROMOLOGY
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Natural Science Collection (ProQuest), Biological Science Database (ProQuest), Health Research Premium Collection (ProQuest), Pharma Collection (ProQuest)
- İstanbul Üniversitesi Adresli: Evet
Özet
Introduction: Sandestig-Stefanova syndrome is a new and extremely rare autosomal recessive genetic disorder characterized by microcephaly, ocular anomalies, distinctive facial features, cleft lip/palate, digital anomalies, congenital heart disease, central nervous system anomalies, hypotonia, central respiratory failure, and poor prognosis. Biallelic loss-of-function variants in the NUP188 gene are the cause of Sandestig-Stefanova syndrome. To date, only 11 patients have been reported in the literature. Case Presentation: In this study, we present a novel homozygous pathogenic frameshift variant in the NUP188 gene in a Turkish female patient. The patient was born small for gestational age and exhibited microcephaly, cataracts, dysmorphic facial features, ventricular septal defect and secundum atrial septal defect, right kidney axis rotation anomaly, ventriculomegaly, and digital anomalies. The parents were healthy and consanguineous (first cousins). Family history was notable for a previously deceased sibling with a similar clinical presentation. Our patient displayed clinical symptoms similar to those reported in previous studies; however, she also exhibited additional findings, including optic disc hypoplasia, right kidney axis rotation anomaly, and faint palmar creases. Conclusion: These additional findings expand the clinical spectrum of this extremely rare disease. Identifying a novel pathogenic variant improves our understanding of the molecular causes of the disorder and broadens its genotypic spectrum.