title: Novel FOXC2 missense mutation identified in patient with lymphedema-distichiasis syndrome and review.
abstract: Lymphedema-distichiasis (OMIM 153400) is a dominantly inherited disorder typically presenting with lymphedema at puberty and distichiasis at birth. The condition has been decisively linked to mutations in the forkhead transcription factor FOXC2 which have been primarily frameshift mutations truncating the protein. We report here a novel missense mutation along with a literature review summarizing reported mutations.
authors.affiliation: Department of Surgery, University of Texas Southwestern, Dallas, USA.
authors.forename: M T
authors.initials: MT
authors.lastname: Dellinger
authors.forename: K
authors.initials: K
authors.lastname: Thome
authors.forename: M J
authors.initials: MJ
authors.lastname: Bernas
authors.forename: R P
authors.initials: RP
authors.lastname: Erickson
authors.forename: M H
authors.initials: MH
authors.lastname: Witte
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D005140:Eyelashes / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D008209:Lymphedema / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D013577:Syndrome
chemical_list: D051858:Forkhead Transcription Factors; C082078:mesenchyme fork head 1 protein