Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9

We report three patients with hitherto unreported SOX9 abnormalities. Our data broaden pathogenic SOX9 abnormalities to include C‐terminal missense substitutions which lead to target‐gene specific protein dysfunction, and enhancer‐containing upstream microdeletions. Notably, the patients manifested testicular dysgenesis and regression without skeletal dysplasia.

Source: Molecular Genetics & Genomic Medicine - July 1, 2015 Category: Genetics & Stem Cells Authors: Yuko Katoh‐Fukui, Maki Igarashi, Keisuke Nagasaki, Reiko Horikawa, Toshiro Nagai, Takayoshi Tsuchiya, Erina Suzuki, Mami Miyado, Kenichiro Hata, Kazuhiko Nakabayashi, Keiko Hayashi, Yoichi Matsubara, Takashi Baba, Ken‐ichirou Morohashi, Arisa Igarashi Tags: Original Article Source Type: research