Analysis of De Novo HOXA 13 Polyalanine Expansions Supports Replication Slippage Without Repair in Their Generation

• Published in: American journal of medical genetics. Part A Vol. 161; no. 5; pp. 1019 - 1027
• Main Authors: Owens, Kailey M., Quinonez, Shane C., Thomas, Peedikayil E., Keegan, Catherine E., Lefebvre, Nanci, Roulston, Diane, Larsen, Christine A., Stadler, H. Scott, Innis, Jeffrey W.
• Format: Journal Article
• Language: English
• Published: 01.05.2013

Abstract Polyalanine repeat expansion diseases are hypothesized to result from unequal chromosomal recombination, yet mechanistic studies are lacking. We identified two de novo cases of hand‐foot‐genital syndrome (HFGS) associated with polyalanine expansions in HOXA13 that afforded rare opportunitie...