A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus

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Bulut G., Turgut G. T., Toksoy G., Altunoǧlu U., Aslanger A. D., Uyguner Z. O., ...More

MOLECULAR SYNDROMOLOGY, vol.16, no.1, pp.69-76, 2025 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 1
  • Publication Date: 2025
  • Doi Number: 10.1159/000540314
  • Journal Name: MOLECULAR SYNDROMOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.69-76
  • Keywords: Autosomal recessive, Hydrocephalus, Novel mutation, NUP188, Whole exome sequencing
  • Open Archive Collection: AVESIS Open Access Collection
  • Istanbul University Affiliated: Yes

Abstract

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 ex-sibling. 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. (C) 2024 The Author(s).Published by S. Karger AG, Basel