SALL4 deletions are a common cause of Okihiro and acrorenal- ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

Borozdin W., Boehm D., Lehipoldt M., Wilhelm C., Reardon W., Clayton-Smith J., ...More

JOURNAL OF MEDICAL GENETICS, vol.41, pp.1-8, 2004 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 41
  • Publication Date: 2004
  • Journal Name: JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1-8
  • Dokuz Eylül University Affiliated: Yes

Abstract

The SALL genes, similar to the Drosophila gene spalt,1probably encode zinc-finger transcription factors. In humans, four such genes have been identified to date. Mutations at SALL1 on chromosome 16q12.1 have been associated with Townes-Brocks syndrome and related phenotypes, 2 3 and mutations at SALL4 have been shown to be causative in patients with Okihiro/Duane-radial ray syndrome (OMIM No 607323).4 5 SALL26 and SALL37 have not yet been associated with human disease.