Brinkmeier Michelle L, Cheung Leonard Y M, O'Connell Sean P, Gutierrez Diana K, Rhoads Eve C, Camper Sally A, Davis Shannon W
Department of Human Genetics, University of Michigan, Ann Arbor, MI, 48109-5618, USA.
Current address: Department of Physiology and Biophysics, Renaissance School of Medicine, State University of New York, Stonybrook, NY 11794, USA.
bioRxiv. 2025 Feb 3:2025.01.30.635771. doi: 10.1101/2025.01.30.635771.
Nucleoredoxin () encodes a multi-functional enzyme with oxidoreductase activity that regulates many different signaling pathways and cellular processes in a redox-dependent manner. Rare mutations are reported in individuals with recessive Robinow syndrome, which involves mesomelic skeletal dysplasia, short stature, craniofacial dysmorphisms, and incompletely penetrant heart and palate defects. Here we report that is expressed in the ventral diencephalon and developing pituitary gland, and that deficient mice have pituitary dysmorphology and craniofacial abnormalities that include defects in the skull base and cleft palate. mutant mice exhibit reduced WNT signaling and reduced differentiation of pituitary stem cells into hormone-producing cells. These results suggest patients with Robinow syndrome could benefit from evaluation by endocrinologists for pituitary structural imaging and hormone insufficiency.
核氧化还原蛋白（）编码一种具有氧化还原酶活性的多功能酶，该酶以氧化还原依赖的方式调节许多不同的信号通路和细胞过程。在患有隐性罗宾诺综合征的个体中报告了罕见突变，该综合征涉及中肢短小骨骼发育不良、身材矮小、颅面畸形以及不完全外显的心脏和腭裂缺陷。在这里，我们报告核氧化还原蛋白（）在腹侧间脑和发育中的垂体中表达，并且核氧化还原蛋白（）缺陷的小鼠具有垂体形态异常和颅面异常，包括颅底缺陷和腭裂。核氧化还原蛋白（）突变小鼠表现出WNT信号传导减少以及垂体干细胞向激素产生细胞的分化减少。这些结果表明，罗宾诺综合征患者可能受益于内分泌科医生对垂体结构成像和激素不足的评估。
