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[Analysis of ELN gene mutation in a pedigree affected with cutis laxa]
Hai Xiao1, Zhaojing Zhang, Xue Lyu
1Medical Genetics Institute of Henan Province, Henan Provincial People' s Hospital, Zhengzhou, Henan 450003, China. regalyang@163.com.
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.
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