May spina bifida result from an X-linked defect in a selective abortion mechanism?
It is suggested that the major genetic factor in determining the birth of children with neural tube defects may be a single X-linked gene. It acts as an X-linked dominant, not by producing neural tube defects, but by enabling the affected fetus to survive selective spontaneous abortion. This mechanism, mediated at the deciduoplacental junction, may be under the control of both maternal and fetal genes. With more mutant alleles, survival would become more likely, reaching a maximum in the homozygous affected female fetus of a homozygous affected mother. The female excess in anancephaly is greater than that in spina bifida because of its prenatal severity, thus requiring relatively more mutant alleles for survival.
D000022:Abortion, Spontaneous / Q000235:genetics*; D005260:Female; D005328:Fetal Viability; D005787:Gene Frequency; D005799:Genes, Dominant; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008954:Models, Biological; D009154:Mutation; D011247:Pregnancy; D012730:Sex Chromosomes; D016136:Spina Bifida Occulta / Q000235:genetics*; D014960:X Chromosome