کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2817955 1160020 2012 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema–distichiasis syndrome
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema–distichiasis syndrome
چکیده انگلیسی

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 two nucleotides (CC) in C repeats between C586 and C591. 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.


► We describe a new mutation in the FOXC2 gene in LDS family members.
► Lymphoscintigram shows atypical for LDS invisible proximal lymphnodes.
► This new mutation could be coupled with an atypical patient's lymphoscintigram.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 498, Issue 1, 25 April 2012, Pages 96–99
نویسندگان
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