A novel mutation in the FRAS1 gene in a patient with Fraser syndrome.

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.

Citation

S Ozemri Sag, O Gorukmez, O Gorukmez, M Ture, S Sahinturk, A Topak, T Gulten, D Schanze, T Yakut, M Zenker. A novel mutation in the FRAS1 gene in a patient with Fraser syndrome. Genetic counseling (Geneva, Switzerland). 2015;26(1):21-7

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PMID: 26043503

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