PTPRF is disrupted in a patient with syndromic amastia.

ABSTRACT:

Background

The presence of mammary glands distinguishes mammals from other organisms. Despite significant advances in defining the signaling pathways responsible for mammary gland development in mice, our understanding of human mammary gland development remains rudimentary. Here, we identified a woman with bilateral amastia, ectodermal dysplasia and unilateral renal agenesis. She was found to have a chromosomal balanced translocation, 46,XX,t(1;20)(p34.1;q13.13). In addition to characterization of her clinical and cytogenetic features, we successfully identified the interrupted gene and studied its consequences.

Methods

Characterization of the breakpoints was performed by molecular cytogenetic techniques. The interrupted gene was further analyzed using quantitative real-time

SUBMITTER: Ausavarat S 

PROVIDER: S-EPMC3083333 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature