Tenney Jeffrey R, Hopkin Robert J, Schapiro Mark B
Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, and University of Cincinnati College of Medicine, Cincinnati, OH 45229-3039, USA.
J Child Neurol. 2011 Feb;26(2):223-7. doi: 10.1177/0883073810379638. Epub 2010 Sep 10.
Deletions of chromosome 17p13.3 result in neuronal migration defects such as isolated lissencephaly sequence and Miller-Dieker syndrome. LIS1 is the deleted gene within this region and is thought to directly cause isolated lissencephaly sequence and contribute to Miller-Dieker syndrome. Two additional genes (14-3-3ε and CRK) on the telomeric end of chromosome 17p reportedly contribute to the severe phenotype of Miller-Dieker syndrome. We report 2 patients with deletions of chromosome 17p13.3 involving the genes 14-3-3ε and CRK but not LIS1 with previously unreported, identical phenotypes of macrocephaly, small stature, dysmorphic features, generalized epilepsy, developmental delay, and nonspecific white matter changes. The findings in this report suggest that patients who have deletions of 14-3-3ε and/or CRK should be monitored closely for the development of seizures.
17号染色体p13.3区域的缺失会导致神经元迁移缺陷，如孤立性无脑回序列和米勒-迪克尔综合征。LIS1是该区域内被删除的基因，被认为直接导致孤立性无脑回序列，并与米勒-迪克尔综合征的发生有关。据报道，17号染色体p端的另外两个基因（14-3-3ε和CRK）与米勒-迪克尔综合征的严重表型有关。我们报告了2例17号染色体p13.3区域缺失的患者，其涉及基因14-3-3ε和CRK，但不涉及LIS1，具有以前未报道过的相同表型，包括巨头畸形、身材矮小、畸形特征、全身性癫痫、发育迟缓以及非特异性白质改变。本报告中的发现表明，对于有14-3-3ε和/或CRK缺失的患者，应密切监测癫痫的发生。
