A case of treacher collins syndrome

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Ulusal S., GÜRKAN H., Vatansever Ü., Kürkçü K., TOZKIR H., ACUNAŞ B. A.

Balkan Journal of Medical Genetics, cilt.16, sa.2, ss.77-80, 2013 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 16 Sayı: 2
  • Basım Tarihi: 2013
  • Doi Numarası: 10.2478/bjmg-2013-0036
  • Dergi Adı: Balkan Journal of Medical Genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.77-80
  • Anahtar Kelimeler: De novo mutation, Mandibulofacial dysostosis, TCOF1 gene, Treacher Collins syndrome (TCS)
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Trakya Üniversitesi Adresli: Evet

Özet

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021-1022delAG deletion in exon 7 of the TCOF1 gene (NG-011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021-1022delAG mutation.