Article
De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly.
Human mutation - 1 Aug 2017
Yamoto Kaori, Saitsu Hirotomo, Nakagawa Norio, Nakajima Hisakazu, Hasegawa Tatsuji, Fujisawa Yasuko, Kagami Masayo, Fukami Maki, Ogata Tsutomu
Abstract excerpt
Although paternally expressed IGF2 is known to play a critical role in placental and body growth, only a single mutation has been found in IGF2. We identified, through whole-exome sequencing, a de novo IGF2 indel mutation leading to frameshift (NM_000612.5:c.110_117delinsAGGTAA, p.(Leu37Glnfs*31)) in a patient with Silver-Russell syndrome, ectrodactyly, undermasculinized genitalia, developmental delay, and...
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