Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
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DOI：
10.1038/83703
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发表时间：
2001-01-01
期刊：
影响因子：
30.8
通讯作者：
Wilkie, AOM
中科院分区：
文献类型：
--
作者：
Mavrogiannis, LA;Antonopoulou, I;Wilkie, AOM
颅骨骨化的遗传缺陷通常表现为对称的顶骨孔（PFM; MIM 168500）。我们以前在非综合征性PFM中鉴定了MSX 2突变，并证明了遗传异质性（1）。11 p11-p12缺失（近端11 p缺失综合征，P11 pDS; MIM 601224;参考文献2）的特征是多发性外生骨疣，可归因于EXT 2的单倍不足（参考文献2）。3.4）和PFM。在这里，我们确定ALX 4，它编码一个配对相关的同源结构域转录因子，作为P11 pDS中的PFM疾病基因。
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.