Narrowing the Critical Region for Congenital Vertical Talus in Patients With Interstitial 18q Deletions

被引：10

作者：

Mark, Paul R. ^{[1
]}

Radlinski, Brian C. ^{[2
]}

Core, Nathalie ^{[3
]}

Fryer, Alan ^{[4
]}

Kirk, Edwin P. ^{[5
]}

Haldeman-Englert, Chad R. ^{[6
]}

机构：

[1] Spectrum Hlth, Dept Med Genet, Grand Rapids, MI USA

[2] Michigan State Univ, Coll Human Med, Grand Rapids, MI USA

[3] Univ Aix Marseille 2, IBDML, UMR6216, CNRS, Marseille, France

[4] Countess Chester Hosp NHS Fdn Trust, Cheshire & Merseyside Reg Clin Genet Dept, Liverpool, Merseyside, England

[5] Sydney Childrens Hosp, Dept Med Genet, Sydney, NSW, Australia

[6] Wake Forest Sch Med, Dept Pediat, Med Genet Sect, Winston Salem, NC USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161A卷 / 05期

基金：

英国惠康基金;

关键词：

18q deletion; microarray; congenital vertical talus; TSHZ1; TEASHIRT GENE; AURAL ATRESIA; CHROMOSOME; 18Q; DROSOPHILA; PROTEIN; PHENOTYPE;

D O I：

10.1002/ajmg.a.35791

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Interstitial deletions of 18q lead to a number of phenotypic features, including multiple types of foot deformities. Many of these associated phenotypes have had their critical regions narrowly defined. Here we report on three patients with small overlapping deletions of chromosome 18q determined by microarray analysis (chr18:72493281-73512553 hg19 coordinates). All of the patients have congenital vertical talus (CVT). Based on these findings and previous reports in the literature and databases, we narrow the critical region for CVT to a minimum of five genes (ZNF407, ZADH2, TSHZ1, C18orf62, and ZNF516), and propose that TSHZ1 is the likely causative gene for CVT in 18q deletion syndrome. (C) 2013 Wiley Periodicals, Inc.

引用

页码：1117 / 1121

页数：5

共 25 条

[1] The Drosophila teashirt homeotic protein is a DNA-binding protein and modulo, a HOM-C regulated modifier of variegation, is a likely candidate for being a direct target gene [J].