A novel nonsense mutation in <i>SCAF4</i> associated with fliedner-zweier syndrome: a case report and review of the literature.

ABSTRACT:

Introduction

Variants in the SR-related C-terminal domain-Associated factor 4 (SCAF4) gene are linked to Fliedner-Zweier syndrome (FZS), which presents with diverse symptoms, including mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies. However, there is a paucity of cases describing genotypes and clinical features.

Case presentation

We present the case of a 4-year and seven-month-old Chinese boy displaying intellectual impairment, language development disorder, behavioral abnormalities, and distinct facial features. Whole exome sequencing (WES) identified a heterozygous nonsense mutation, c.1693C>T (p.Arg565*), located in exon 14 of the SCAF4 gene (NM_020706). Sanger sequencing confirmed paternal inheritance of th

SUBMITTER: Chen Z 

PROVIDER: S-EPMC12021868 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature