Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.

@article{Knig2000MutationsIT,
  title={Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.},
  author={Arne K{\"o}nig and Rudolf Happle and Dorothea Bornholdt and H. I. Engel and K. H. Grzeschik},
  journal={American journal of medical genetics},
  year={2000},
  volume={90 4},
  pages={339-46}
}
We report for the first time that CHILD syndrome (MIM 308050), an X-linked dominant, male-lethal trait characterized by an inflammatory nevus with striking lateralization and strict midline demarcation, as well as ipsilateral hypoplasia of the body is caused by mutations in the gene NSDHL located at Xq28 (NAD(P)H steroid dehydrogenase-like protein) encoding a 3beta-hydroxysteroid dehydrogenase functioning in the cholesterol biosynthetic pathway. SSCA and genomic sequence analysis of NSDHL… CONTINUE READING