A novel elastin gene mutation in a Vietnamese patient with cutis laxa.
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.
Stamford Skin and Medical Centre, Ho Chi Minh City, Vietnam.
Mark L
ML
Siefring
Elizabeth C
EC
Lawrence
Tom C
TC
Nguyen
Doanh
D
Lu
Giang
G
Pham
Christa
C
Lorenchick
Kara L
KL
Levine
Zsolt
Z
Urban
D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D003483:Cutis Laxa / Q000235:genetics* / Q000473:pathology*; D004549:Elastin / Q000235:genetics*; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D010290:Parents; D017354:Point Mutation; D014744:Vietnam
D004549:Elastin