A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

Alison J. Ross, Victor Ruiz-Perez, Yiming Wang, Donna Marie Hagan, Steve Scherer, Sally A. Lynch, Susan Lindsay, Emily Custard, Elena Belloni, David I. Wilson, Roy Wadey, Frances Goodman, Karen Helene Orstavik, Tom Monclair, Steve Robson, William Reardon, John Burn, Pete Scambler, Tom Strachan

Research output: Contribution to journalArticlepeer-review


Partial absence of the sacrum is a rare congenital defect which also occurs as an autosomal dominant trait; association with anterior meningocoele, presacral teratoma and anorectal abnormalities constitutes the Currarino triad (MIM 176450). Malformation at the caudal end of the developing notochord at approximately Carnegie stage 7 (16 post-ovulatory days), which results in aberrant secondary neurulation, can explain the observed pattern of anomalies. We previously reported linkage to 7q36 markers in two dominantly inherited sacral agenesis families. We now present data refining the initial subchromosomal localization in several additional hereditary sacral agenesis (HSA) families. We excluded several candidate genes before identifying patient-specific mutations in a homeobox gene, HLXB9, which was previously reported to map to 1q41-q42.1 and to be expressed in lymphoid and pancreatic tissues.

Original languageEnglish
Pages (from-to)358-361
Number of pages4
JournalNature Genetics
Issue number4
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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