Hikita Norikatsu, Hattori Hideji, Kato Mitsuhiro, Sakuma Satoru, Morotomi Yoshiki, Ishida Hiroshi, Seto Toshiyuki, Tanaka Katsuji, Shimono Taro, Shintaku Haruo, Tokuhara Daisuke
Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
Nishinomiya-Sunago Medical and Welfare Center, Hyogo, Japan.
Brain Dev. 2014 Feb;36(2):159-62. doi: 10.1016/j.braindev.2013.02.006. Epub 2013 Mar 23.
Gene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS). The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes. Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene. The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease. Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation.
微管蛋白α-1A（TUBA1A）是细胞骨架微管的关键组成部分，其基因突变会损害神经迁移并导致无脑回畸形（LIS）。迄今为止报道的约45例与疾病相关的TUBA1A突变病例表现出广泛的表型。在此，我们描述了一名8岁女孩，患有无脑回畸形、小头畸形和早发性癫痫发作，与TUBA1A基因的一种新突变相关。该患者还患有无神经节细胞性巨结肠病和抗利尿激素分泌不当综合征（SIADH），此前在TUBA1A突变相关疾病中尚未有过描述。我们的病例为与TUBA1A突变相关的广泛疾病表型提供了新的见解。
