Article
Identification of a de novo mutation of the elastin gene by targeted exome sequencing in autosomal dominant cutis laxa.
Clinical and experimental dermatology - 1 Oct 2022
Makino Teruhiko, Terada Yoshiyuki, Mizawa Megumi, Hirono Keiichi, Adachi Yuichi, Aoki Satomi, Kubo Akiharu, Shimizu Tadamichi
Abstract excerpt
Cutis laxa (CL) comprises a heterogeneous group of entities mainly classified as X-linked, autosomal dominant and recessive forms, which differ in severity. We encountered a CL baby with no familial history. We performed targeted exome sequencing, and detected a de novo heterozygous frameshift mutation in the elastin gene of the baby.
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