Article
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
American journal of medical genetics. Part A - 1 Jul 2021
Uehara Tomoko, Sanuki Rikako, Ogura Yurie, Yokoyama Atsushi, Yoshida Takeshi, Futagawa Hiroshi, Yoshihashi Hiroshi, Yamada Mamiko, Suzuki Hisato, Takenouchi Toshiki, Matsubara Kohei, Hirata Hiromi, Kosaki Kenjiro, Takano-Shimizu Toshiyuki
Abstract excerpt
Nuclear factor I A (NFIA) is a transcription factor that belongs to the NFI family. Truncating variants or intragenic deletion of the NFIA gene are known to cause the human neurodevelopmental disorder known as NFIA-related disorder, but no patient heterozygous for a missense mutation has been reported. Here, we document two unrelated patients with typical phenotypic features of the NFIA-related disorder who...
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