Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome

American Journal of Medical Genetics, Part A

Volumn 140, Issue 18, 2006, Pages 1909-1914

  Slavotinek, A ^a   Li, C ^b   Sherr, E H ^a   Chudley, A E ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF MANITOBA   (Canada)

Author keywords

Blebbed mutant; Cryptophthalmos; Fraser syndrome; MOTA syndrome

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; EXON; FEMALE; FRAMESHIFT MUTATION; FRAS1 GENE; FRASER SYNDROME; GENE; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENITAL MALFORMATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; LARYNX DISORDER; MALE; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SYNDACTYLY; UROGENITAL TRACT MALFORMATION;

ADOLESCENT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FACIES; FEMALE; FRAMESHIFT MUTATION; FRASIER SYNDROME; HUMANS; INFANT; MUTATION; SEQUENCE DELETION;

EID: 33748582926     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31399     Document Type: Article

References (12)

1. 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.
2. Darling S, Gossler A. 1994. A mouse model for Fraser syndrome? Clin Dysmorphol 3:91-95.
3. Gattuso J, Patton MA, Baraitser M. 1987. The clinical spectrum of Fraser syndrome: Report of three new cases and review. J Med Genet 24:549-555.
4. Goretzki L, Burg MA, Grako KA, Stallcup WB. 1999. High-affinity binding of basic fibroblast growth factor and platelet-derived growth factor-AA to the core protein of the NG2 proteoglycan. J Biol Chem 274:16831-16837.
5. Hodor PG, Illies MR, Broadley S, Ettensohn CA. 2000. Cell-substrate interactions during sea urchin gastrulation: Migrating primary mesenchyme cells interact with and align extracellular matrix fibers that contain ECM3, a molecule with NG2-like and multiple calcium-binding domains. Dev Biol 222:181-194.
6. Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ. 2005. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet 37:520-525.
7. Marles SL, Greenberg CR, Persaud TV, Shuckett EP, Chudley AE. 1992. New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians. Am J Med Genet 42:793-799.
8. McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ. 2003. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet 34:203-208.
9. 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.
10. Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA. Jones MC. 1986. Isolated and syndromiccryptophthalmos. Am J Med Genet 25:85-98.
11. Tillet E, Ruggiero F, Nishiyama A, Stallcup WB. 1997. The membrane-spanning proteoglycan NG2 binds to collagens V and VI through the central nonglobular domain of its core protein. J Biol Chem 272:10769-10776.
12. Vrontou S, Petrou P, Meyer BI, Galanopoulos VK, Imai K, Yanagj M, Chowdhury K, Scambler PJ, Chalepakis G. 2003. Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. Nat Genet 34:209-214.