Department of Human Genetics, Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Eur J Hum Genet. 2010 Jun;18(6):662-7. doi: 10.1038/ejhg.2009.236. Epub 2010 Feb 10.
Mammary-digital-nail syndrome is a novel phenotypic association consisting of anonychia onychodystrophy with hypoplasia or absence of distal phalanges in males and females, accompanied by juvenile hypertrophy of the breast in affected females. This newly described genetic trait presents an autosomal dominant inheritance pattern, with either reduced penetrance or germ-line mosaicism. Analysis of the pedigree, linkage studies followed by a genome-wide screen and by haplotype analysis defined the locus for the phenotype within a 12 cM (4.3 Mb) interval on chromosome 22q12.3-13.1. This chromosomal region has not been implicated before in genetic disorders of the mammary tissue or limbs. These data suggest a possibly novel signaling pathway affecting the organogenesis of limbs and mammary glands in humans.
乳腺-指（趾）甲-甲床综合征是一种新的表型关联，由男性和女性的无甲、甲营养不良伴远节指（趾）骨缺如或发育不全，以及受影响女性的幼年性乳腺肥大组成。这种新描述的遗传特征表现为常染色体显性遗传模式，存在外显率降低或种系镶嵌性。通过家系分析、连锁研究、全基因组筛查以及单体型分析，将表型的基因座定位在染色体 22q12.3-13.1 上的 12cM（4.3Mb）区间内。该染色体区域以前未涉及乳腺组织或肢体的遗传疾病。这些数据表明，在人类中可能存在一条影响肢体和乳腺器官发生的新的信号通路。
