Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema–distichiasis syndrome
| Autor: | Aneta Hill-Bator, Justyna Gil, Agnieszka Stembalska, Andrzej Szuba, Edyta Sutkowska |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Male Mutation rate Distichiasis Nonsense mutation Biology Frameshift mutation Genetics medicine Humans Missense mutation Lymphedema Frameshift Mutation Eyelashes Genetic disorder Forkhead Transcription Factors Syndrome General Medicine medicine.disease Molecular biology Stop codon Pedigree Codon Nonsense Child Preschool Mutation (genetic algorithm) Female |
| Zdroj: | Gene. 498:96-99 |
| ISSN: | 0378-1119 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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