Fibroblast Growth Factor Receptor 1 - Clinical Significance

Clinical Significance

Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, squamous cell lung cancer (14) and autosomal dominant Kallmann syndrome. There is also strong evidence from sequencing studies of candidate genes involved in clefting that mutations in the FGFR1 gene may be associated in the pathogenesis of cleft lip and/or palate. A few DNA sequence variants, including one nonsense mutation, have been reported in isolated or non-syndromic cleft lip and palate. Both cleft lip with or without a cleft palate and cleft palate only features have been seen in families with a FGFRI mutation. Cleft palate is a relatively common feature of Kallman syndrome as well. Somatic chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.