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

ABSTRACT:

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 mid-pregnancy (III5).

Results

Medi

SUBMITTER: Ding F 

PROVIDER: S-EPMC11936978 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature