title: A novel mutation in the FRAS1 gene in a patient with Fraser syndrome.
abstract: Fraser Syndrome (FS) is a rare disease with autosomal recessive inheritance characterized by cryptophthalmus, cutaneous syndactyly, laryngeal and urogenital anomalies. Mutations in the genes FRAS1 and FREM2 encoding components of a protein complex of the extracellular matrix, and recently also mutations in GRIP1 have been found to be causative for FS. We present here molecular and clinical findings of a patient with FS who was found to have a novel homozygous frameshift mutation c.9739delA, p.(T3247Pfs*44) in exon 63 of FRAS1 gene. Further testing confirmed the heterozygous carrier status of parents.
authors.forename: S
authors.initials: S
authors.lastname: Ozemri Sag
authors.forename: O
authors.initials: O
authors.lastname: Gorukmez
authors.forename: O
authors.initials: O
authors.lastname: Gorukmez
authors.forename: M
authors.initials: M
authors.lastname: Ture
authors.forename: S
authors.initials: S
authors.lastname: Sahinturk
authors.forename: A
authors.initials: A
authors.lastname: Topak
authors.forename: T
authors.initials: T
authors.lastname: Gulten
authors.forename: D
authors.initials: D
authors.lastname: Schanze
authors.forename: T
authors.initials: T
authors.lastname: Yakut
authors.forename: M
authors.initials: M
authors.lastname: Zenker
mesh_terms: D016326:Extracellular Matrix Proteins / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics*; D058497:Fraser Syndrome / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male
chemical_list: D016326:Extracellular Matrix Proteins; C475145:FRAS1 protein, human