Identification of a de novo mutation of the elastin gene by targeted exome sequencing in autosomal dominant cutis laxa

Teruhiko Makino; Yoshiyuki Terada; Megumi Mizawa; Keiichi Hirono; Yuichi Adachi; Satomi Aoki; Akiharu Kubo; Tadamichi Shimizu

doi:10.1111/ced.15303

Identification of a de novo mutation of the elastin gene by targeted exome sequencing in autosomal dominant cutis laxa

Clin Exp Dermatol. 2022 Oct;47(10):1895-1897. doi: 10.1111/ced.15303. Epub 2022 Aug 24.

Authors

Teruhiko Makino¹, Yoshiyuki Terada¹, Megumi Mizawa¹, Keiichi Hirono², Yuichi Adachi², Satomi Aoki³, Akiharu Kubo^{3

4}, Tadamichi Shimizu¹

Affiliations

¹ Department of Dermatology, Faculty of Medicine, Academic Assembly, University of Toyama, Toyama, Japan.
² Department of Pediatrics, Faculty of Medicine, Academic Assembly, University of Toyama, Toyama, Japan.
³ Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
⁴ Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.

PMID: 36002914
DOI: 10.1111/ced.15303

Abstract

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.

MeSH terms

Cutis Laxa* / genetics
Elastin / genetics
Exome / genetics
Frameshift Mutation
Humans
Infant
Mutation

Substances

Elastin

Supplementary concepts

Cutis Laxa, Autosomal Dominant