A CASE OF TREACHER COLLINS SYNDROME

被引：6

作者：

Ulusal, S. ^{[1
]}

Gurkan, H. ^{[1
]}

Vatansever, U. ^{[2
]}

Kurkcu, K. ^{[3
]}

Tozkir, H. ^{[1
]}

Acunas, B. A. ^{[2
]}

机构：

[1] Trakya Univ, Fac Med, Dept Med Genet, Edirne, Turkey

[2] Trakya Univ, Fac Med, Dept Pediat, Edirne, Turkey

[3] Burc Genet Diag Ctr, Istanbul, Turkey

来源：

BALKAN JOURNAL OF MEDICAL GENETICS | 2013年 / 16卷 / 02期

关键词：

TCOF1; gene; Treacher Collins syndrome (TCS); Mandibulofacial dysostosis; De novo mutation; DYSOSTOSIS; GENE;

D O I：

10.2478/bjmg-2013-0036

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：77 / 80

页数：4

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