Article
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
Journal of medical genetics - 1 Apr 2011
Ostergaard Pia, Simpson Michael A, Brice Glen, Mansour Sahar, Connell Fiona C, Onoufriadis Alexandros, Child Anne H, Hwang Jae, Kalidas Kamini, Mortimer Peter S, Trembath Richard, Jeffery Steve
Abstract excerpt
BACKGROUND: Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is frequently genetic in origin, and a multigenerational family in which eight individuals developed postnatal lymphoedema of all four limbs was ascertained from the joint Lymphoedema/Genetic clinic at St George's Hospital. METHODS: Linkage analysis was used to determine a locus, and exome...
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