Analysis of ELN gene mutation in a pedigree affected with cutis laxa

Objective: To carry out genetic diagnosis for a pedigree affected with cutis laxa.

Methods: Genomic DNA was extracted from peripheral blood samples from members of the pedigree and 50 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and verified by Sanger sequencing.

Results: A heterozygous c.1985delG mutation was identified in the ELN gene among all patients from this pedigree. The same mutation was not found among unaffected family members and 50 healthy controls.

Conclusions: The genetic etiology for the pedigree has been elucidated, which has enabled genetic counseling and guidance for reproduction.