Truncating mutation in NFIA causes brain malformation and urinary tract defects.
Truncating mutation in NFIA causes brain malformation and urinary tract defects.
复制标题
DOI：
10.1038/hgv.2015.7
复制
发表时间：
2015
影响因子：
1.5
通讯作者：
Saitoh S
中科院分区：
文献类型：
--
作者：
Negishi Y;Miya F;Hattori A;Mizuno K;Hori I;Ando N;Okamoto N;Kato M;Tsunoda T;Yamasaki M;Kanemura Y;Kosaki K;Saitoh S
涉及核因子I/A（NFIA）基因的染色体1 p32-p31缺失综合征的特征是胼胝体发育不全或缺陷和尿路缺陷。在此，我们报告的情况下，类似的1 p32-p31缺失综合征携带从头截断突变（c.1094delC; p.Pro365Hisfs*32）在NFIA基因，证实单倍不足的NFIA基因是一个主要的决定因素，这种综合征。
Chromosome 1p32-p31 deletion syndrome involving the Nuclear factor I/A (NFIA) gene is characterized by corpus callosum hypoplasia or defects and urinary tract defects. Herein we report on a case resembling the 1p32-p31 deletion syndrome carrying a de novo truncating mutation (c.1094delC; p.Pro365Hisfs*32) in the NFIA gene, confirming that haploinsufficiency of the NFIA gene is a major determinant of this syndrome.