title: Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema-distichiasis syndrome.
abstract: Lymphoedema-distichiasis syndrome (LDS, OMIM #153400) is a genetic disorder with an autosomal dominant pattern of inheritance caused by mutations in the FOXC2 gene. Affected individuals typically present with lower extremity lymphoedema and distichiasis. The most common types of mutations in FOXC2 gene include small deletions and insertions, but duplications, duplications-insertions, missense and nonsense mutations were also found. Herein, we describe three generations of a family diagnosed with LDS caused by a new mutation in the FOXC2 gene. This mutation is a frameshift due to a deletion of the nucleotides (CC) in C repeats between C590 [corrected] and C595 [corrected]. This mutation leads to protein truncation as a result of an earlier insertion of a stop codon. To the best of our knowledge, this is the first description of this mutation in the literature and could be coupled with an atypical lymphoscintigram.
authors.affiliation: Department and Clinic of Orthopaedic and Traumatologic Surgery-Division of Rehabilitation, Wroclaw Medical University, Borowska str. 213, 50-556 Wroclaw, Poland. edytasutkowska@yahoo.com
authors.forename: Edyta
authors.initials: E
authors.lastname: Sutkowska
authors.forename: Justyna
authors.initials: J
authors.lastname: Gil
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Stembalska
authors.forename: Aneta
authors.initials: A
authors.lastname: Hill-Bator
authors.forename: Andrzej
authors.initials: A
authors.lastname: Szuba
mesh_terms: D000328:Adult; D002675:Child, Preschool; D018389:Codon, Nonsense; D005140:Eyelashes / Q000002:abnormalities; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D008209:Lymphedema / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome
chemical_list: D018389:Codon, Nonsense; D051858:Forkhead Transcription Factors; C082078:mesenchyme fork head 1 protein