Truncating mutation in NFIA causes brain malformation and urinary tract defects

被引：22
作者：
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
机构：
[1] Nagoya City University Graduate School of Medical Sciences,Department of Pediatrics and Neonatology
[2] Laboratory for Medical Science Mathematics,Department of Nephro
[3] RIKEN Center for Integrative Medical Sciences,Urology
[4] Nagoya City University Graduate School of Medical Sciences,Department of Medical Genetics
[5] Osaka Medical Center and Research Institute for Maternal and Child Health,Department of Pediatrics
[6] Yamagata University Faculty of Medicine,Department of Neurosurgery
[7] Takatsuki General Hospital,Division of Regenerative Medicine
[8] Institute for Clinical Research,Department of Neurosurgery
[9] Osaka National Hospital,undefined
[10] National Hospital Organization,undefined
[11] Osaka National Hospital,undefined
[12] National Hospital Organization,undefined
[13] Center for Medical Genetics,undefined
[14] Keio University School of Medicine,undefined
来源：
Human Genome Variation | / 2卷 / 1期
关键词：
D O I：
10.1038/hgv.2015.7
中图分类号：
学科分类号：
摘要：
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.
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