SavedAdd your journal

Journals / Sürekli Tıp Eğitimi Dergisi / 2019 / Cilt: 28 Sayı: 6

A Newborn Fraser Syndrome Case With FRAS1 Gene Mutation

FRAS1 Gen Mutasyonuna Sahip Fraser Sendromlu Yenidoğan Olgu

Zübeyde Dinçer(KAHRAMANMARAŞ SÜTÇÜ İMAM ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0002-6549-2910
Hatice Güneş(KAHRAMANMARAŞ SÜTÇÜ İMAM ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0002-6940-0964
Nurgül Çimen Parlak(KAHRAMANMARAŞ SÜTÇÜ İMAM ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0003-3414-1605
Salim Ekici(KAHRAMANMARAŞ SÜTÇÜ İMAM ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0001-5881-7302
Sevcan İpek(KAHRAMANMARAŞ SÜTÇÜ İMAM ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0002-1406-4895
Sadık Yurttutan(KAHRAMANMARAŞ SÜTÇÜ İMAM ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0003-1607-8980
Pages
452–455
Publication Date
2019-12-06
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Our aim was to discuss this case which had multiple organ anomalies in the light of the literature.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Fraser syndrome is a rare disorder with autosomal recessive inheritance.
📊
Key Findings & Data:It occurs as a result of a number of mutations in the FRAS1, FREM2 and GRYP1 genes.
💡
Conclusion & Impact:Our aim was to discuss this case which had multiple organ anomalies in the light of the literature.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Fraser sendromu · kriptoftalmus · sindaktili

Abstract

Fraser syndrome is a rare disorder with autosomal recessive inheritance. The main features are cryptophthalmus (hidden eye), ear, nose and skeletal malformations, syndactyly, laryngeal stenosis and malformation of the urogenital system, lungs. It occurs as a result of a number of mutations in the FRAS1, FREM2 and GRYP1 genes. The definitive diagnosis is made by detecting gene mutation. In this study, we present a case with Fraser syndrome who had FRAS1 mutation. Our aim was to discuss this case which had multiple organ anomalies in the light of the literature.

Özet

Fraser sendromu, otozomal resesif kalıtım modeline sahip nadir hastalıklardan birisidir. Kriptoftalmus (saklı göz), kulak, burun ve iskelet malformasyonları, sindaktili, laringeal darlık ve ürogenital, akciğer anomalileri ana özelliklerdir.FRAS1, FREM2 ve GRİP1 genlerinde meydana gelen bir takım mutasyonlar sonucunda oluşur. Kesin tanısı gen mutasyonu tespiti ile yapılır.Bu çalışmada Fraser sendromlu FRAS1 mutasyonuna sahip bir olgu sunduk. Olgumuzda çok sayıda anomalinin bir arada olması ve Fraser sendromunun nadir görülmesi nedeniyle olguyu literatür eşliğinde tartışmayı amaçladık.

🔖

Cite This Article

Dinçer, Z., Güneş, H., Parlak, N. Ç., Ekici, S., İpek, S., Yurttutan, S. (2019). A Newborn Fraser Syndrome Case With FRAS1 Gene Mutation. Sürekli Tıp Eğitimi Dergisi, Cilt: 28 Sayı: 6, 452–455. https://doi.org/10.17942/sted.443583

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (13)

  1. Fraser Gr. Our genetical load. A reviewof some aspects of genetic variation. Ann Hum Genet 1962;25:387-415.
  2. Slavotinek AM, Tift Cj. Fraser syndrome and cryptophthalmos: review of the diagnosis criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet 2002;39:623-633.
  3. Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC. Isoleted and syndromic cryptophthalmos. Am J Med Genet 1986;25:85-98.
  4. Slavotinek A, Li C, Sherr EH, Chudley AE. Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. Am J Med Genet A 2006;140A:1909-1914.
  5. Smyth I, Scambler P. Genetics of the Fraser syndrome and the blebs mouse mutants. Hum Molec Genet 2005; 14:269-274.
  6. Van Haelst MM, Scambler Pj; Fraser syndrome Collaboration Group, Hennekam RC. Fraser Syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet A 2007; 143:3194-203.
  7. Dalezious Y, Papasozomenos B, Petrou P, Chalepakis G.Ultrastructural localization of Fras1 in the sublamina densa of embryonic epithelial basement membranes. Arch Dermatol Res 2007; 299:337-343.
  8. Long J, Wei Z, Feng W, Yu C, Zhao YX, Zhang M.Supramodular nature of GRIP1 revealed by the structure of its PDZ12 tandem in complex with the carboxyl tail of Fras1. JMol Biol 2007; doi:10.1016/j.jmb.2007.11.088.
  9. Tayman C, Yılmaz A, Tonbul A, Polat E, Kunak B. Fraser sendromu. Yeni Tıp Dergisi 2006;23:163-166.
  10. Narang M, Kumar M, Shah D. Fraser-cryphthalmos syndrome with colonic atresia. Indian J Pediatr 2008;75:189-191.
  11. Vrontou S, Petrou P, Meyer Bl, et al. Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. Nat Genet 2003;34:209-214.
  12. Ramsing M, Rehder H, Holzgreve W, Meinecke P, Lenz W. Fraser syndrome in fetus and newborn. Clin Genet 1990;37:84-96.
  13. Janssen HC JP, Schaap C, Vandevijver N, Moerman P, de Die-Smulders CEM, Fryns JP. Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: A new lethal MCA syndrome? J Med Genet 1999;35:481-484.