sentences:  Interstitial deletions at human chromosome 8p12-p11, arginine to a stop nonsense mutation at FGFR1 amino acid 622 (annotated as R622X), and numerous other autosomal dominant inactivating mutations in "FGFR1" are responsible for ~10% of the cases of Kallmann syndrome.This syndrome is a form of hypogonadotropic hypogonadism associated in a varying percentage of cases with anosmia or hyposmia; cleft palate and other craniofacial defects; and scoliosis and other musculoskeletal malformations.An activating mutation in FGFR1 viz., P232R (proline-to-arginine substitution in the protein's 232nd amino acid), is responsible for the Type 1 or classic form of (Pfeiffer syndrome]], a disease characterized by craniosynostosis and mid-face deformities.