Treacher!Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1

被引：11

作者：

Horiuchi, K

Ariga, T

Fujioka, H

Kawashima, K

Yamamoto, Y

Igawa, H

Sakiyama, Y

Sugihara, T

机构：

[1] Sapporo City Gen Hosp, Dept Plast & Reconstruct Surg, Chuo Ku, Sapporo, Hokkaido, Japan

[2] Hokkaido Univ, Grad Sch Med, Dept Plast & Reconstruct Surg, Sapporo, Hokkaido 060, Japan

[3] Hokkaido Univ, Grad Sch Med, Res Grp Human Gene Therapy, Sapporo, Hokkaido 060, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2004年 / 128A卷 / 02期

关键词：

treacle; haploinsufficiency;

D O I：

10.1002/ajmg.a.30038

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Treacher Collins syndrome (TCS) is caused by mutations in TCOF1 of the nonsense, small deletion, and small insertion types, which most likely result in haploinsufficiency. We report a novel de novo, nonsense mutation 2731C --> T, resulting in Arg911Stop, which truncates the protein. Our patient had the classic findings of TCS, but with documented craniosynostosis, choanal atresia, and esophageal regurgitation. (C) 2004 Wiley-Liss, Inc.

引用

页码：173 / 175

页数：3

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