Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog


Solomon B. D., Bear K. A., Wyllie A., Keaton A. A., Dubourg C., David V., ...More

JOURNAL OF MEDICAL GENETICS, vol.49, no.7, pp.473-479, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 49 Issue: 7
  • Publication Date: 2012
  • Doi Number: 10.1136/jmedgenet-2012-101008
  • Journal Name: JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.473-479
  • Istanbul University Affiliated: Yes

Abstract

Background Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in SHH remain the most common cause of nonchromosomal HPE. The severity spectrum is wide, ranging from incompatibility with extrauterine life to isolated midline facial differences.