Analysis of ELN gene mutation in a pedigree affected with cutis laxa / 中华医学遗传学杂志

ABSTRACT

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.@*CONCLUSION@#The genetic etiology for the pedigree has been elucidated, which has enabled genetic counseling and guidance for reproduction.