Intrafamilial variability in Fraser syndrome

Prenatal Diagnosis

Volumn 27, Issue 8, 2007, Pages 778-782

  Prasun, Pankaj ^a   Pradhan, Mandakini ^a   Goel, Himanshu ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Cryptophthalmos syndrome; Fraser syndrome; Prenatal diagnosis

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; FEMALE; FRASER SYNDROME; HUMAN; KIDNEY AGENESIS; PHENOTYPE; PLASTIC SURGERY; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; ULTRASOUND;

ABNORMALITIES, MULTIPLE; EYE ABNORMALITIES; EYELIDS; FATAL OUTCOME; FEMALE; FRASIER SYNDROME; HUMANS; INFANT, NEWBORN; KIDNEY; PHENOTYPE; PREGNANCY; ULTRASONOGRAPHY, PRENATAL; VARIATION (GENETICS);

EID: 34547781263     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1774     Document Type: Article

References (15)

1. Ansley SJ, Badano JL, Blacque OE, et al. 2003. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425(6958): 628-633.
2. Badano JL, Kim JC, Hoskins BE, et al. 2003. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum Mol Genet 12: 1651-1659.
3. Boyd PA, Keeling JW, Lindenbaum RH. 1988. Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings. Am J Med Genet 31: 159-168.
4. Burn J, Marwood RP. 1982. Fraser syndrome presenting as bilateral renal agenesis in three sibs. J Med Genet 19: 360-361.
5. Francannet C, Lefrancois P, Dechelotte P, Robert E, Malpuech G, Robert JM. 1990. Fraser syndrome with renal agenesis in two consanguineous Turkish families. Am J Med Genet 36: 477-479.
6. Jadeja S, Smyth I, Pitera JE, et al. 2005. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet 37: 520-525.
7. Katsanis N. 2004. The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet 13: R65-R71, Spec No 1.
8. Kiyozumi D, Sugimoto N, Sekiguchi K. 2006. Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. Proc Natl Acad Sci USA 103: 11981-11986.
9. McGregor L, Makela V, Darling SM, et al. 2003. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet 34: 203-208.
10. Mortimer G, Mc Ewan HP, Yates JR. 1985. Fraser syndrome presenting as monozygotic twins with bilateral renal agenesis. J Med Genet 22: 76-78.
11. Rousseau T, Laurent N, Thauvin-Robinet C, et al. 2002. Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome. Prenat Diagn 22: 692-696.
12. Slavotinek AM, Tifft CJ. 2002. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet 39: 623-633.
13. Smyth I, Scambler P. 2005. The genetics of Fraser syndrome and the blebs mouse mutants. Hum Mol Genet 14: R269-R274, Spec No.2.
14. Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC. 1986. Isolated and syndromic cryptophthalmos. Am J Med Genet 25: 85-98.
15. Vrontou S, Petrou P, Meyer BI, et al. 2003. Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. Nat Genet 34: 209-214.