A rare variation of ERCC8 gene cause Cockayne Syndrome in a Chinese family

Ding, Fengjuan; FEI, HOU; Zhao, Bowen; Jin, Hua

doi:10.3389/fgene.2025.1531832

ORIGINAL RESEARCH article

Front. Genet.

Sec. Genetics of Aging

Volume 16 - 2025 | doi: 10.3389/fgene.2025.1531832

This article is part of the Research Topic Rising Stars in Genetics of Aging View all 5 articles

A rare variation of ERCC8 gene cause Cockayne Syndrome in a Chinese family

Provisionally accepted

Fengjuan Ding

HOU FEI

Bowen Zhao

Hua Jin ^*

Jinan Maternity And Child Care Hospital, Jinan, China

The final, formatted version of the article will be published soon.

Background:Cockayne syndrome (CS) is a multisystem degenerative disorder in which dysplasia and microcephaly represent the primary criteria for diagnosis.we present the cases of two patients who exhibited distinctive facial features and a range of other clinical manifestations, including growth failure, developmental delay, microcephaly, dental anomalies, and unstable gait.Methods:Clinical information pertaining to the patient's family was collated and the Pedigree chart was drawn.Two milliliters of peripheral blood were drawn from each of the two patients (III1and III3) and their parents, The causative genes were identified by Medical exome sequencing. Furthermore, the pregnant women underwent amniotic fluid prenatal diagnosis at midpregnancy(III5). Results:Medical exome sequencing revealed that both patients had a homozygous deletion of Exon4 in the ERCC8 gene and that both parents were carriers. Prenatal diagnosis by amniotic fluid confirmed that the fetus (III5) did not carry the variant. Conclusion:This clarified the diagnosis at the genetic level, deepened our understanding of the disease, and facilitated the ability to provide accurate genetic counseling and prenatal diagnosis, with the goal of reducing the number of new affected individuals in the family 1

Keywords: Cockayne Syndrome1, Medical exome sequencing2, ERCC83, prenatal diagnosis4, rare inherited disorders5

Received: 21 Nov 2024; Accepted: 21 Feb 2025.

Copyright: © 2025 Ding, FEI, Zhao and Jin. 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: Hua Jin, Jinan Maternity And Child Care Hospital, Jinan, China

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