SOX10 mutations in patients with Waardenburg-Hirschsprung disease

Wegner M (1998)

Publication Type: Journal article, Original article

Publication year: 1998


Publisher: Nature Publishing Group

Book Volume: 18

Pages Range: 171-173

Journal Issue: 2

DOI: 10.1038/ng0298-171


Waardenburg syndrome (WS; deafness with pigmentary abnormalities) and Hirschsprung's disease (HSCR; aganglionic megacolon) are congenital disorders caused by defective function of the embryonic neural crest1,2. WS and HSCR are associated in patients with Waardenburg-Shah syndrome (WS4), whose symptoms are reminiscent of the white coat-spotting and aganglionic megacolon displayed by the mouse mutants Dom (Dominant megacolon), piebald-lethal (s(l)) and lethal spotting (ls). The s(l) and ls phenotypes are caused by mutations in the genes encoding the Endothelin-B receptor (Ednrb) and Endothelin 3 (Edn3), respectively. The identification of Sox10 as the gene mutated in Dom mice (B.H. et al., manuscript submitted) prompted us to analyse the role of its human homologue SOX10 in neural crest defects. Here we show that patients from four families with WS4 have mutations in SOX10, whereas no mutation could be detected in patients with HSCR alone. These mutations are likely to result in haploinsufficiency of the SOX10 product. Our findings further define the locus heterogeneity of Waardenburg- Hirschsprung syndromes, and point to an essential role of SOX10 in the development of two neural crest-derived human cell lineages.

Authors with CRIS profile

How to cite


Wegner, M. (1998). SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nature Genetics, 18(2), 171-173.


Wegner, Michael. "SOX10 mutations in patients with Waardenburg-Hirschsprung disease." Nature Genetics 18.2 (1998): 171-173.

BibTeX: Download