A NOVEL MUTATION IN THE FRAS1 GENE IN A PATIENT WITH FRASER SYNDROME

Sag, S.; Gorukmez, O.; Ture, M.; Sahinturk, SERDAR; Topak, A.; Gulten, T.; Schanze, D.; Yakut, T.; Zenker, M.

A NOVEL MUTATION IN THE FRAS1 GENE IN A PATIENT WITH FRASER SYNDROME

Sag S. O., Gorukmez O., Ture M., Sahinturk S., Topak A., Gulten T., ...Daha Fazla

GENETIC COUNSELING, cilt.26, sa.1, ss.21-27, 2015 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 26 Sayı: 1
Basım Tarihi: 2015
Dergi Adı: GENETIC COUNSELING
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.21-27
Anahtar Kelimeler: Fraser syndrome FRAS1, Cryptophthalmus, Syndactyly, CRYPTOPHTHALMOS
Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.