Oculodentodigital dysplasia (ODDD) causes widespread abnormalities in the teeth, digits and eyes, as well as variable dysfunctional effects in the heart and brain. It is caused by a genetic mutation in connexin43 (Cx43), a gap junction protein widely expressed in the female reproductive system. Since the influence of Cx43 on fertility is unknown, Dan Tong and colleagues examined mice with a dominant loss-of-function mutation in Cx43 and characteristics of human ODDD. Compared with wild-type mice, mutant mice have similar numbers of germ cells but fewer pre-ovulatory follicles and no ovulation response to hormonal stimulation. Mutants also have less mating success and smaller litters. These data demonstrate a role for Cx43 in fertility and prompt further investigation of reproductive issues in ODDD patients.
The connexin connection to fertility
The connexin connection to fertility. Dis Model Mech 25 February 2009; 2 (3-4): 93. doi:
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