Emilio García-García, Raquel M Fernández, Constanza Navarro-Moreno, Ana L Gómez-Gila, Salud Borrego
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Identification of a novel mutation in FGFR1 gene in mother and daughter with Kallmann syndrome.
Objectives: Congenital hypogonadotropic hypogonadism combined with anosmia or hyposmia is considered Kallmann syndrome (KS). It is often accompanied by bone defects.
Case presentation: Here, we report a girl and her mother with KS caused by a novel mutation in the fibroblast growth factor receptor 1 gene (FGFR1). Interestingly, the daughter presented syndactyly and oligodactyly of the feet.
Conclusions: The presence of bone malformations in a KS patient should direct the geneticist towards a search for specific mutations in FGFR1. Our finding contributes to enrich the spectrum of FGFR1 mutations in patients with KS.
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