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  • Title: A novel mutation in the FRAS1 gene in a patient with Fraser syndrome.
    Author: Ozemri Sag S, Gorukmez O, Gorukmez O, Ture M, Sahinturk S, Topak A, Gulten T, Schanze D, Yakut T, Zenker M.
    Journal: Genet Couns; 2015; 26(1):21-7. PubMed ID: 26043503.
    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.
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