Truncating mutation in NFIA causes brain malformation and urinary tract defects.

ABSTRACT: 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.

SUBMITTER: Negishi Y 

PROVIDER: S-EPMC4785547 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature