ORIGINAL RESEARCH article
Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 13 - 2025 | doi: 10.3389/fped.2025.1592954
A novel variation in RSPO4 causing nonsyndromic congenital nail disorder-4 in a Chinese Patient
Provisionally accepted
- 1Sheng Jing Hospital Affiliated, China Medical University, Shenyang, China
- 2Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi Zhuang Region, China
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Background: Non-syndromic congenital nail disorder type 4 (OMIM: 206800) is a rare autosomal recessive condition characterized by severe hypoplasia or complete absence of fingernails and toenails. This disorder results from variants in the RSPO4 gene (OMIM: 610573) located on chromosome 20p13.Objective: This study aimed to assess the potential pathogenicity of a novel RSPO4 variant identified in a Chinese patient and to explore the variant-based screening, genetic diagnostics, and molecular insights into RSPO4-related disorders.
Keywords: Congenital nail disorder, RSPO4 Gene, Novel variation, Whole-exome sequencing, genetic analysis
Received: 13 Mar 2025; Accepted: 03 Jun 2025.
Copyright: © 2025 Zhang, YANG, zhou, zhang and luo. 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: jingsi luo, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi Zhuang Region, China
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