PROKR2 and PROK2 mutations cause isolated congenital anosmia without gonadotropic deficiency.

Abstract excerpt

OBJECTIVE: Isolated congenital anosmia (ICA) is a rare phenotype defined as absent recall of any olfactory sensations since birth and the absence of any disease known to cause anosmia. Although most cases of ICA are sporadic, reports of familial cases suggest a genetic cause. ICA due to olfactory bulb agenesis and associated to hypogonadotropic hypogonadism defines Kallmann syndrome (KS), in which several gene...

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• Child
• Kallmann Syndrome
• Neuropeptides
• Olfaction Disorders
• Olfactory Bulb