Article
Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.
Human molecular genetics - 15 Oct 2011
Alvarado David M, McCall Kevin, Aferol Hyuliya, Silva Matthew J, Garbow Joel R, Spees William M, Patel Tarpit, Siegel Marilyn, Dobbs Matthew B, Gurnett Christina A
Abstract excerpt
Clubfoot affects 1 in 1000 live births, although little is known about its genetic or developmental basis. We recently identified a missense mutation in the PITX1 bicoid homeodomain transcription factor in a family with a spectrum of lower extremity abnormalities, including clubfoot. Because the E130K mutation reduced PITX1 activity, we hypothesized that PITX1 haploinsufficiency could also cause clubfoot. Using...
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