ORIGINAL RESEARCH article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1624122
Identification and splicing analysis Of the first deep intronic FIG4 variant causing Yunis-Varon Syndrome
Provisionally accepted
- Suzhou Municipal Hospital, Suzhou, China
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Yunis-Varón syndrome (YVS) is a severe autosomal recessive syndrome caused by FIG4 gene characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies and a poor prognosis, due to neurological and cardiovascular involvement. In this study, we collected a Chinese family with three patients presenting thumbs and halluce dysplasia. Whole-genome sequencing (WGS) identified a compound heterozygous variant: c.2097-809A>G and c.1141C>T (p.R381*) in the proband. c.2097-809A>G generated an aberrant splicing transcript containing a section of pseudoexon from intron18 by further RTPCR and splicing analysis as the first deep intronic in the FIG4 gene. In addition, we provided prenatal diagnoses for this family. This study expands the genetic variant spectrum, provides additional molecular and clinical information and extends the molecular mechanisms involved in the disease course.
Keywords: Yunis-Varón syndrome, FIG4 gene, deep intronic variant, Whole-genome sequencing, Prenatal Diagnosis
Received: 08 May 2025; Accepted: 14 Jul 2025.
Copyright: © 2025 Tang, Zhang, Chen, Xiang and Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Jingjing Xiang, Suzhou Municipal Hospital, Suzhou, China
Ting Wang, Suzhou Municipal Hospital, Suzhou, China
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