A novel VEGFR3 mutation causes Milroy disease.

A novel VEGFR3 mutation causes Milroy disease. Research Abstract Details 

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A novel VEGFR3 mutation causes Milroy disease. Abstract Text:

Matthew G Butler,Susan L Dagenais,Stanley G Rockson,Thomas W Glover,

Milroy disease, also known as primary congenital lymphedema, is a hereditary form of lymphedema with autosomal dominant inheritance. Individuals with Milroy disease are typically characterized by congenital onset of lymphedema of the lower limbs due to hypoplasia of the lymphatic vessels. The genetic basis of most cases of Milroy disease has not been established, although mutations in the vascular endothelial growth factor receptor VEGFR3 (FLT-4) are responsible for some cases with 17 mutations described to date. In this report, we describe a novel VEGFR3 mutation in exon 22 in a four-generation family in which congenital lymphedema segregates in an autosomal dominant manner. In addition to lymphedema, affected family members had other clinical manifestations associated with Milroy disease including hydrocele, ski jump toenails, large caliber veins, and subcutaneous thickening. We screened VEGFR3 for mutations which revealed a novel 3059A>T transversion in exon 22 resulting in Q1020L missense mutation in the second tyrosine kinase domain of VEGFR3. This mutant allele segregated with lymphedema among affected individuals with incomplete penetrance. This is the first report of an exon 22 mutation in Milroy disease.

A novel VEGFR3 mutation causes Milroy disease. Publishing Authors By Initials

MG Butler,SL Dagenais,SG Rockson,TW Glover,

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A novel VEGFR3 mutation causes Milroy disease. Journal Published:

PUBLICATION TYPE: Research Support, N.I.H., Extr

Journal: American journal of medical genetics. Part A

VOLUME: 143

Page Numbers: 1212-7

Journal Abbreviation: Am. J. Med. Genet. A

ISSN: 1552-4825

DAY: 1

MONTH: Jun

YEAR: 2007

A novel VEGFR3 mutation causes Milroy disease. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 101235741

A novel VEGFR3 mutation causes Milroy disease. Keywords Mesh Terms:

KEYWORDS: Vascular Endothelial Growth Factor Recep

MESH TERMS: genetics

Chemical & Substance for Abstract: A novel VEGFR3 mutation causes Milroy disease. Information

Substance Name: Vascular Endothelial Growth Factor Recep

Registry Number: EC 2.7.1.112

Grant and Affiliation Information for A novel VEGFR3 mutation causes Milroy disease.

AFFILIATION: Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-0618, USA. butlerm@umich.edu

Country: United States

AGENCY: United States NHLBI

GRANT: HL71206

ACRONYM: HL

MEDLINETA: Am J Med Genet A

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