Truncating mutation in NFIA causes brain malformation and urinary tract defects

Yutaka Negishi; Fuyuki Miya; Ayako Hattori; Kentaro Mizuno; Ikumi Hori; Naoki Ando; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Shinji Saitoh

doi:10.1038/hgv.2015.7

Truncating mutation in NFIA causes brain malformation and urinary tract defects

Hum Genome Var. 2015 Feb 26:2:15007. doi: 10.1038/hgv.2015.7. eCollection 2015.

Authors

Affiliations

¹ Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences , Nagoya, Japan.
² Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences , Yokohama, Japan.
³ Department of Nephro-Urology, Nagoya City University Graduate School of Medical Sciences , Nagoya, Japan.
⁴ Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health , Osaka, Japan.
⁵ Department of Pediatrics, Yamagata University Faculty of Medicine , Yamagata, Japan.
⁶ Department of Neurosurgery, Takatsuki General Hospital , Osaka, Japan.
⁷ Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, Osaka, Japan; Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, Osaka, Japan.
⁸ Center for Medical Genetics, Keio University School of Medicine , Tokyo, Japan.

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.