A novel elastin gene mutation in a Vietnamese patient with cutis laxa

Mark L Siefring; Elizabeth C Lawrence; Tom C Nguyen; Doanh Lu; Giang Pham; Christa Lorenchick; Kara L Levine; Zsolt Urban

doi:10.1111/pde.12334

A novel elastin gene mutation in a Vietnamese patient with cutis laxa

Mark L Siefring, Elizabeth C Lawrence, Tom C Nguyen, Doanh Lu, Giang Pham, Christa Lorenchick, Kara L Levine, Zsolt Urban

Miami Cardiac & Vascular Institute

Research output: Contribution to journal › Article › peer-review

Abstract

We report a 3-year-old girl from Vietnam with severe congenital cutis laxa; no cardiovascular, pulmonary, neurologic, or visceral involvement; and no family history of cutis laxa. Mutational analysis of the elastin gene identified heterozygosity for a previously unreported de novo c.2184delT mutation in exon 30 not present in either parent.

Original language	English
Pages (from-to)	347-9
Number of pages	3
Journal	Pediatric dermatology
Volume	31
Issue number	3
DOIs	https://doi.org/10.1111/pde.12334
State	Published - 2014

Keywords

Asian People/genetics
Child, Preschool
Cutis Laxa/genetics
Elastin/genetics
Family Health
Female
Heterozygote
Humans
Parents
Point Mutation
Vietnam

Access to Document

10.1111/pde.12334

Cite this

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title = "A novel elastin gene mutation in a Vietnamese patient with cutis laxa",

abstract = "We report a 3-year-old girl from Vietnam with severe congenital cutis laxa; no cardiovascular, pulmonary, neurologic, or visceral involvement; and no family history of cutis laxa. Mutational analysis of the elastin gene identified heterozygosity for a previously unreported de novo c.2184delT mutation in exon 30 not present in either parent.",

keywords = "Asian People/genetics, Child, Preschool, Cutis Laxa/genetics, Elastin/genetics, Family Health, Female, Heterozygote, Humans, Parents, Point Mutation, Vietnam",

author = "Siefring, {Mark L} and Lawrence, {Elizabeth C} and Nguyen, {Tom C} and Doanh Lu and Giang Pham and Christa Lorenchick and Levine, {Kara L} and Zsolt Urban",

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AU - Siefring, Mark L

AU - Lawrence, Elizabeth C

AU - Nguyen, Tom C

AU - Lu, Doanh

AU - Pham, Giang

AU - Lorenchick, Christa

AU - Levine, Kara L

AU - Urban, Zsolt

PY - 2014

Y1 - 2014

N2 - We report a 3-year-old girl from Vietnam with severe congenital cutis laxa; no cardiovascular, pulmonary, neurologic, or visceral involvement; and no family history of cutis laxa. Mutational analysis of the elastin gene identified heterozygosity for a previously unreported de novo c.2184delT mutation in exon 30 not present in either parent.

AB - We report a 3-year-old girl from Vietnam with severe congenital cutis laxa; no cardiovascular, pulmonary, neurologic, or visceral involvement; and no family history of cutis laxa. Mutational analysis of the elastin gene identified heterozygosity for a previously unreported de novo c.2184delT mutation in exon 30 not present in either parent.

KW - Asian People/genetics

KW - Child, Preschool

KW - Cutis Laxa/genetics

KW - Elastin/genetics

KW - Family Health

KW - Female

KW - Heterozygote

KW - Humans

KW - Parents

KW - Point Mutation

KW - Vietnam

U2 - 10.1111/pde.12334

DO - 10.1111/pde.12334

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JF - Pediatric dermatology

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