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

@article{6d257914d5cd43f892b337a58f9809c5,

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",

note = "{\textcopyright} 2014 Wiley Periodicals, Inc.",

year = "2014",

doi = "10.1111/pde.12334",

language = "English",

volume = "31",

pages = "347--9",

journal = "Pediatric dermatology",

issn = "0736-8046",

number = "3",

}

TY - JOUR

T1 - A novel elastin gene mutation in a Vietnamese patient with cutis laxa

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

M3 - Article

C2 - 24758204

SN - 0736-8046

VL - 31

SP - 347

EP - 349

JO - Pediatric dermatology

JF - Pediatric dermatology

IS - 3

ER -