DM Hagan

TL;DR: Data is presented refining the initial subchromosomal localization in several additional hereditary sacral agenesis (HSA) families and 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.

TL;DR: In this article, the authors highlight expression differences for the SRY, SOX9, and DAX1 genes during sex determination in humans and mice, and provide a direct framework for future investigation into the mechanisms underlying normal and abnormal human sex determination.

TL;DR: These studies, which delineate for the first time the sequential expression profiles of SF-1 and WT1 during human gonadal development, provide a framework for understanding human sex reversal phenotypes associated with their mutations.

TL;DR: The HLXB9 homeobox gene was recently identified as a locus for autosomal dominant Currarino syndrome, also known as hereditary sacral agenesis (HSA) as discussed by the authors.

TL;DR: An extensive mutation survey is reported that has identified mutations in the HLXB9 gene in 20 of 21 patients tested with familial Currarino syndrome and all of the intragenic mutations were associated with comparable phenotypes.