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2012 | 53 | 3 |
Tytuł artykułu

Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome

Warianty tytułu
Języki publikacji
EN
Abstrakty
EN
Treacher Collins syndrome (TCS) is associated with an abnormal differentiation of the first and second pharyngeal arches during fetal development. This causes mostly craniofacial deformities, which require numerous corrective surgeries. TCS is an autosomal dominant disorder and it occurs in the general population at a frequency of 1 in 50,000 live births. The syndrome is caused by mutations in the TCOF1 gene, which encodes the serine/alanine-rich protein named Treacle. Over 120 mutations of the TCOF1 gene responsible for TCS have been described. About 70% of recognized mutations are deletions, which lead to a frame shift, formation of a termination codon, and shortening of the protein product of the gene. Herewith, a new heterozygotic insertion, c.484_668ins185bp, was described in two monozygotic twin sisters suffering from TCS. This mutation was absent in their father, brother, and uncle, indicating a de novo origin. The insertion causes a shift in the reading frame and premature termination of translation at 167 aa. The novel insertion is the longest ever found in the TCOF1 gene and the only one found among monozygotic twin sisters.
Słowa kluczowe
Wydawca
-
Rocznik
Tom
53
Numer
3
Opis fizyczny
p.279-282,fig.,ref.
Twórcy
  • Department of Genetics, Wroclaw University of Environmental and Life Sciences, Kozuchowska 7, 51-631 Wroclaw, Poland
autor
  • Department of Plastic Surgery, Wroclaw Medical University, Wroclaw, Poland
autor
  • Department of Genetics, Wroclaw Medical University, Wroclaw, Poland
  • Faculty of Public Health WSPiA, Poznan, Poland
Bibliografia
Uwagi
EN
Rekord w opracowaniu
Typ dokumentu
Bibliografia
Identyfikatory
Identyfikator YADDA
bwmeta1.element.agro-21c58f27-9257-48a0-b85e-0743c7dfc701
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