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, vol.16, no.2, pp.77-80, 2013 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 16 Issue: 2
  • Publication Date: 2013
  • Doi Number: 10.2478/bjmg-2013-0036
  • Journal Name: Balkan Journal of Medical Genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.77-80
  • Keywords: De novo mutation, Mandibulofacial dysostosis, TCOF1 gene, Treacher Collins syndrome (TCS)
  • Open Archive Collection: AVESIS Open Access Collection
  • Trakya University Affiliated: Yes

Abstract

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.