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

Lookup NU author(s): Dr Victor Ruiz-Perez, Dr Donna Hagan, Dr Sally Lynch, Emerita Professor Susan Lindsay, Dr David Wilson, Professor Steve RobsonORCiD, Professor Tom Strachan


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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.

Publication metadata

Author(s): Ross AJ, Ruiz-Perez V, Wang Y, Hagan D-M, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T

Publication type: Letter

Publication status: Published

Journal: Nature Genetics

Year: 1998

Volume: 20

Issue: 4

Pages: 358-361

ISSN (print): 1061-4036

ISSN (electronic): 1546-1718


DOI: 10.1038/3828

PubMed id: 9843207