A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus

Creative Commons License

Bulut G., Turgut G. T., TOKSOY G., Altunoǧlu U., Aslanger A. D., UYGUNER Z. O., ...Daha Fazla

Molecular Syndromology, 2024 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1159/000540314
  • Dergi Adı: Molecular Syndromology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Autosomal recessive, Hydrocephalus, Novel mutation, NUP188, Whole exome sequencing
  • İstanbul Üniversitesi Adresli: Evet

Özet

Introduction: Sandestig-Stefanova syndrome (MIM: 618804) is characterized by pre- and postnatal microcephaly, trigonocephaly, bilateral congenital cataracts, microphthalmia, cleft lip and palate or high-arched palate, camptodactyly, rocker-bottom feet, heart anomalies, periventricular white matter loss, thin corpus callosum, and delayed myelination. Bi-allelic loss-of-function variants in the Nucleoporin 188 (NUP188) (MIM:615587) gene are implicated in the etiology. Case Presentation: Our patient, born to consanguineous parents, presented with tetralogy of Fallot, bilateral congenital cataracts, hydrocephalus, a bifid uvula, a right pelvic kidney, hepatomegaly, facial feature findings, and a history of a similarly affected exsibling. Whole exome sequence analysis in the index case revealed a novel homozygous variant NM_015354.2: c.124C>T/p. (Arg42Ter) in the NUP188 gene. Conclusion: This study describes a new patient with Sandestig- Stefanova syndrome harboring a novel pathogenic variant in the NUP188 gene.