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

To carry out genetic diagnosis for a pedigree affected with cutis laxa.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.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.The genetic etiology for the pedigree has been elucidated, which has enabled genetic counseling and guidance for reproduction.