Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Novel Homozygous Splice Variant in the NUP188 Gene Causing Sandestig-Stefanova Syndrome in a Saudi Patient.

American journal of medical genetics. Part A - 1 Jan 2026

Almalki Faisal, Alkorbi Haifa Abdullah, Kamal Naglaa M, El Naggar Mahmoud Elsaid, Bahlak Ibrahim Khaled, Althobaiti Mohammed Saad, El Zeky Alaaeddin Mohammed El Sayed, Abdelkader Ahmed Mohamed Elmarghany, Alruqi Haya, Alharbi Essa, Althobiti Jwaher Mesleh

Abstract excerpt

Sandestig-Stefanova syndrome (SANDSTEF) (OMIM: 618804) is a recently identified autosomal recessive disorder characterized by a complex phenotype affecting multiple organ systems. To date, only 10 cases have been reported in the literature. Here, we present a newly identified patient exhibiting a distinct clinical presentation, along with a novel homozygous splice variant in NUP188. The proband has multiple...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Association Studies
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Nuclear Pore Complex Proteins

Share to Pedigree

Share to Phenotype

Share to RNA Splicing

Share to Saudi Arabia

Source

Identifiers

PMID: 40859750
DOI: 10.1002/ajmg.a.64236

Genes

NUP188

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Homozygous Splice Variant in the NUP188 Gene Causing Sandestig-Stefanova Syndrome in a Saudi Patient.PMID 40859750Read ↗

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.Semantic proximity Read ↗

Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant.Semantic proximity Read ↗

A novel nonsense variant of the KAT6B gene associated with cystic hygroma in fetusSemantic proximity Read ↗

Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.Semantic proximity Read ↗

Compound Heterozygous Splicing Variants In KIAA0586 Cause Fetal Short-Rib Thoracic Dysplasia And Cerebellar Malformation: The Use of Whole Exome Sequencing In Prenatal DiagnosisSemantic proximity Read ↗

A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10.Semantic proximity Read ↗

Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.Semantic proximity Read ↗

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.Semantic proximity Read ↗

A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.Semantic proximity Read ↗

[Analysis of clinical features and genetic variant in a neonate with Au-Kline syndrome due to a de novo variant of the HNRNPK gene].Semantic proximity Read ↗

A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.Semantic proximity Read ↗

A de novo heterozygous variant in the SON gene is associated with Zhu-Tokita-Takenouchi-Kim syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.