Truncating mutation in NFIA causes brain malformation and urinary tract defects.
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ABSTRACT:
SUBMITTER: Negishi Y
PROVIDER: S-EPMC4785547 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Publications
Truncating mutation in NFIA causes brain malformation and urinary tract defects.
Negishi Yutaka Y Miya Fuyuki F Hattori Ayako A Mizuno Kentaro K Hori Ikumi I Ando Naoki N Okamoto Nobuhiko N Kato Mitsuhiro M Tsunoda Tatsuhiko T Yamasaki Mami M Kanemura Yonehiro Y Kosaki Kenjiro K Saitoh Shinji S
Human genome variation 20150226
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. ...[more]
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