VANGL2 Mutations in Human Cranial Neural-Tube Defects

YP Lei, T Zhang, H Li, BL Wu, L Jin… - New England Journal …, 2010 - Mass Medical Soc
YP Lei, T Zhang, H Li, BL Wu, L Jin, HY Wang
New England Journal of Medicine, 2010Mass Medical Soc
To the Editor: Mutations in more than 200 genes are known to cause neural-tube defects in
mice; less is known about the genetic cause of neural-tube defects in humans. 1 Kibar and
colleagues2 hypothesized that human neural-tube defects are caused by mutations in
VANGL1 and VANGL2, genes that affect planar cell polarity and cause neural-tube defects
in mice. They identified mutations in VANGL1 but not in VANGL2 in humans. 2 We
hypothesized that mutations in VANGL2 are lethal to the fetus, and therefore we sequenced …
To the Editor: Mutations in more than 200 genes are known to cause neural-tube defects in mice; less is known about the genetic cause of neural-tube defects in humans.1 Kibar and colleagues2 hypothesized that human neural-tube defects are caused by mutations in VANGL1 and VANGL2, genes that affect planar cell polarity and cause neural-tube defects in mice. They identified mutations in VANGL1 but not in VANGL2 in humans.2 We hypothesized that mutations in VANGL2 are lethal to the fetus, and therefore we sequenced VANGL2 in 163 stillborn or miscarried Han Chinese fetuses with neural-tube defects (Table 1 in the Supplementary Appendix, . . .
The New England Journal Of Medicine