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

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)

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.

Original languageEnglish
Article number15007
JournalHuman Genome Variation
Volume2
Issue number1
DOIs
Publication statusPublished - 2015 Feb 26

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

Fingerprint

Dive into the research topics of 'Truncating mutation in NFIA causes brain malformation and urinary tract defects'. Together they form a unique fingerprint.

Cite this