Novel mutation in the FOXC2 gene lymphoedema-distichiasis

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Novel mutation in the FOXC2 gene lymphoedema-distichiasis

Postby patoco » Sat Dec 15, 2012 12:11 pm

Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema-distichiasis syndrome.

Apr 2012

Sutkowska E, Gil J, Stembalska A, Hill-Bator A, Szuba A.


Department and Clinic of Orthopaedic and Traumatologic Surgery-Division of Rehabilitation, Wroclaw Medical University, Borowska str. 213, 50-556 Wroclaw, Poland.

Erratum in
Gene. 2012 Aug 10;504(2):317.


FOXC2 gene; Mutation; Lymphoedema; Distichiasis; Heterogeneity

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.

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