Truncating mutation in NFIA causes brain malformation and urinary tract defects | Zendy

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

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Truncating mutation in NFIA causes brain malformation and urinary tract defects

Author(s) -

Yutaka Negishi,

Fuyuki Miya,

Ayako Hattori,

Kentaro Mizuno,

Ikumi Hori,

N Ando,

Nobuhiko Okamoto,

Mitsuhiro Kato,

Tatsuhiko Tsunoda,

Mami Yamasaki,

Yonehiro Kanemura,

Kenjiro Kosaki,

Shinji Saitoh

Publication year - 2015

Publication title -

human genome variation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.796

H-Index - 14

ISSN - 2054-345X

DOI - 10.1038/hgv.2015.7

Subject(s) - haploinsufficiency , biology , mutation , genetics , gene , corpus callosum , chromosome , urinary system , phenotype , anatomy

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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