Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate.

摘要: Kallmann syndrome (KS) is characterized by isolated hypogonadotropic hypogonadism (IHH) with anosmia and sometimes associated cleft lip/palate (CLP). In order to describe the clinical features, genetic etiology, treatment outcome of KS males CLP, we performed screening for 15 known causal IHH genes (KAL1, FGFR1, NELF, FGF8, CHD7, WDR11, SEMA3A, KISS1R, KISS1, PROKR2, PROK2, TAC3, TACR3, GNRH1, GNRHR) in four CLP patients six without CLP. Two novel heterozygous missense mutations (NM_001174066): c.776G>A (p.G259E) c.358C>T (p.R120C), were identified a 23-year-old male lip an 18-year-old patient palate, dental agenesis, high arched respectively. These two not presented their healthy parents 200 normal controls. One mutation (NM_032551): c.587C>A (p.P196H), was agenesis who developed sperm after being treated gonadotropin. This also his father grandfather. results have implications diagnosis, counseling, FGFR1 gene.