Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

被引：108

作者：

Mavrogiannis, LA

Antonopoulou, I

Baxová, A

Kutílek, S

Kim, CA

Sugayama, SM

Salamanca, A

Wall, SA

Morriss-Kay, GM

Wilkie, AOM ^{[1
]}

机构：

[1] John Radcliffe Hosp, Inst Mol Med, Oxford OX3 9DU, England

[2] Univ Oxford, Dept Human Anat & Genet, Oxford, England

[3] Charles Univ, Fac Med 1, Dept Paediat, Prague, Czech Republic

[4] Charles Univ, Fac Med 1, Dept Med Genet, Prague, Czech Republic

[5] Univ Sao Paulo, Fac Med, Hosp Clin, Inst Crianca, Sao Paulo, Brazil

[6] Univ Granada, Hosp Clin S Cecilio, Dept Obstet & Ginecol, Granada, Spain

[7] Radcliffe Infirm, Craniofacial Unit, Oxford OX2 6HE, England

[8] Dept Clin Genet, Oxford, England

来源：

NATURE GENETICS | 2001年 / 27卷 / 01期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1038/83703

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Inherited defects of skull ossification often manifest as symmetric parietal foramina (PFM; MIM 168500). We previously identified mutations of MSX2 in non-syndromic PFM and demonstrated genetic heterogeneity(1). Deletions of 11p11-p12 (proximal 11p deletion syndrome, P11pDS; MIM 601224; ref. 2) are characterized by multiple exostoses, attributable to haploinsufficiency of EXT2 (refs. 3,4) and PFM. Here we identify ALX4, which encodes a paired-related homeodomain transcription factor, as the PFM disease gene in P11pDS.

引用

页码：17 / 18

页数：2

共 16 条

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[2]

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[3]

2-F

[4]

Iseki S, 1999, DEVELOPMENT, V126, P5611