Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome

Molecular Vision

Volumn 18, Issue , 2012, Pages 1301-1311

  Mateo, Robertino Karlo ^a   Johnson, Royce ^a   Lehmann, Ordan J ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ARTICLE; CANADA; CHILD; CHROMOSOME 9P; CLINICAL ARTICLE; COPY NUMBER VARIATION; ETHNIC GROUP; FEMALE; FREM1 GENE; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HOMOZYGOSITY; HUMAN; INFANT; MALE; MANITOBA OCULOTRICHOANAL SYNDROME; PEDIGREE ANALYSIS; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; REGULATORY SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; ALLELES; ANAL CANAL; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 9; COLOBOMA; ETHNIC GROUPS; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENETIC HETEROGENEITY; GENOTYPE; HOMOZYGOTE; HUMANS; HYPERTELORISM; LINKAGE DISEQUILIBRIUM; MANITOBA; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, INTERLEUKIN; SEQUENCE ANALYSIS, DNA; SEVERITY OF ILLNESS INDEX;

EID: 84863316754     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (45)

1. Marles SL, Greenberg CR, Persaud TV, Shuckett EP, Chudley AE. New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians. Am J Med Genet 1992; 42:793-9. [PMID: 1554017]
2. Li C, Marles SL, Greenberg CR, Chodirker BN, van de Kamp J, Slavotinek A, Chudley AE. Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases. Am J Med Genet A 2007; 143A:853-7. [PMID: 17352387]
3. Ehlers N. Cryptophthalmos with orbito-palpebral cyst and microphthalmos (report of a bilateral case). Acta Ophthalmol (Copenh) 1966; 44:84-94. [PMID: 4958085]
4. Slavotinek AM, Tifft CJ. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet 2002; 39:623-33. [PMID: 12205104]
5. Shafeghati Y, Kniepert A, Vakili G, Zenker M. Fraser syndrome due to homozygosity for a splice site mutation of FREM2. Am J Med Genet A 2008; 146A:529-31. [PMID: 18203166]
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. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet 2005; 37:520-5. [PMID: 15838507]
7. van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K, Hennekam RC, Scambler PJ. Molecular study of 33 families with Fraser syndrome new data and mutation review. Am J Med Genet A 2008; 146A:2252-7. [PMID: 18671281]
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. J Mol Biol 2008; 375:1457-68. [PMID: 18155042]
9. Cavalcanti DP, Matejas V, Luquetti D, Mello MF, Zenker M. Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1. Am J Med Genet A 2007; 143:241-7. [PMID: 17163535]
10. Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM. Mutations in GRIP1 cause Fraser syndrome. J Med Genet. 2012 [PMID: 22510445]
11. Short K, Wiradjaja F, Smyth I. Let's stick together: the role of the Fras1 and Frem proteins in epidermal adhesion. IUBMB Life 2007; 59:427-35. [PMID: 17654118]
12. Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS. FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. Am J Hum Genet 2009; 85:414-8. [PMID: 19732862]
13. Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genet 2011; 7:e1002278. [PMID: 21931569]
14. Varnum DS, Fox SC. Head blebs: a new mutation on chromosome 4 of the mouse. J Hered 1981; 72:293. [PMID: 6793660]
15. Timmer JR, Mak TW, Manova K, Anderson KV, Niswander L. Tissue morphogenesis and vascular stability require the Frem2 protein, product of the mouse myelencephalic blebs gene. Proc Natl Acad Sci USA 2005; 102:11746-50. [PMID: 16087869]
16. Chiotaki R, Petrou P, Giakoumaki E, Pavlakis E, Sitaru C, Chalepakis G. Spatiotemporal distribution of Fras1/Frem proteins during mouse embryonic development. Gene Expr Patterns 2007; 7:381-8. [PMID: 17251066]
17. Takamiya K, Kostourou V, Adams S, Jadeja S, Chalepakis G, Scambler PJ, Huganir RL, Adams RH. A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. Nat Genet 2004; 36:172-7. [PMID: 14730302]
18. Pavlakis E, Chiotaki R, Chalepakis G. The role of Fras1/Frem proteins in the structure and function of basement membrane. Int J Biochem Cell Biol 2011; 43:487-95. [PMID: 21182980]
19. 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. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet 2003; 34:203-8. [PMID: 12766769]
20. Smyth I, Scambler P. The genetics of Fraser syndrome and the blebs mouse mutants. Hum Mol Genet 2005; 14 Spec No. 2:R269-74. [PMID: 16244325]
21. Burg MA, Tillet E, Timpl R, Stallcup WB. Binding of the NG2 proteoglycan to type VI collagen and other extracellular matrix molecules. J Biol Chem 1996; 271:26110-6. [PMID: 8824254]
22. Goretzki L, Burg MA, Grako KA, Stallcup WB. 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 1999; 274:16831-7. [PMID: 10358027]
23. Lander ES, Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987; 236:1567-70. [PMID: 2884728]
24. Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet 2009; 85:240-7. [PMID: 19615668]
25. Littink KW, Koenekoop RK, van den Born LI, Collin RW, Moruz L, Veltman JA, Roosing S, Zonneveld MN, Omar A, Darvish M, Lopez I, Kroes HY, van Genderen MM, Hoyng CB, Rohrschneider K, van Schooneveld MJ, Cremers FP, den Hollander AI. Homozygosity mapping in patients with conerod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci 2010; 51:5943-51. [PMID: 20554613]
26. den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Invest Ophthalmol Vis Sci 2007; 48:5690-8. [PMID: 18055821]
27. Wissinger B, Jagle H, Kohl S, Broghammer M, Baumann B, Hanna DB, Hedels C, Apfelstedt-Sylla E, Randazzo G, Jacobson SG, Zrenner E, Sharpe LT. Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. Genomics 1998; 51:325-31. [PMID: 9721202]
28. Connell F, Kalidas K, Ostergaard P, Brice G, Homfray T, Roberts L, Bunyan DJ, Mitton S, Mansour S, Mortimer P, Jeffery S. Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. Hum Genet 2010; 127:231-41. [PMID: 19911200]
29. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81:559-75. [PMID: 17701901]
30. Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D. The human genome browser at UCSC. Genome Res 2002; 12:996-1006. [PMID: 12045153]
31. Belo JA, Bachiller D, Agius E, Kemp C, Borges AC, Marques S, Piccolo S, De Robertis EM. Cerberus-like is a secreted BMP and nodal antagonist not essential for mouse development. Genesis 2000; 26:265-70. [PMID: 10748465]
32. Mill P, Lee AW, Fukata Y, Tsutsumi R, Fukata M, Keighren M, Porter RM, McKie L, Smyth I, Jackson IJ. Palmitoylation regulates epidermal homeostasis and hair follicle differentiation. PLoS Genet 2009; 5:e1000748. [PMID: 19956733]
33. Ovcharenko I, Nobrega MA, Loots GG, Stubbs L. ECR Browser: a tool for visualizing and accessing data from comparisons of multiple vertebrate genomes. Nucleic Acids Res 2004; 32:W280-6. [PMID: 15215395]
34. Woods CG, Cox J, Springell K, Hampshire DJ, Mohamed MD, McKibbin M, Stern R, Raymond FL, Sandford R, Malik Sharif S, Karbani G, Ahmed M, Bond J, Clayton D, Inglehearn CF. Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet 2006; 78:889-96. [PMID: 16642444]
35. Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet 2011; 48:375-82. [PMID: 21507892]
36. Kiyozumi D, Sugimoto N, Sekiguchi K. 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 2006; 103:11981-6. [PMID: 16880404]
37. Smyth I, Du X, Taylor MS, Justice MJ, Beutler B, Jackson IJ. The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis. Proc Natl Acad Sci USA 2004; 101:13560-5. [PMID: 15345741]
38. Broman KW, Weber JL. Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain. Am J Hum Genet 1999; 65:1493-500. [PMID: 10577902]
39. Noonan JP, McCallion AS. Genomics of long-range regulatory elements. Annu Rev Genomics Hum Genet 2010; 11:1-23. [PMID: 20438361]
40. Fantes J, Redeker B, Breen M, Boyle S, Brown J, Fletcher J, Jones S, Bickmore W, Fukushima Y, Mannens M, Danes S, van Heyningen V, Hanson I. Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. Hum Mol Genet 1995; 4:415-22. [PMID: 7795596]
41. Kleinjan DA, Seawright A, Schedl A, Quinlan RA, Danes S, van Heyningen V. Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6. Hum Mol Genet 2001; 10:2049-59. [PMID: 11590122]
42. Visel A, Minovitsky S, Dubchak I, Pennacchio LA. VISTA Enhancer Browser-a database of tissue-specific human enhancers. Nucleic Acids Res 2007; 35:D88-92. [PMID: 17130149]
43. Cooper GM, Brown CD. Qualifying the relationship between sequence conservation and molecular function. Genome Res 2008; 18:201-5. [PMID: 18245453]
44. Koster MI, Dai D, Marinari B, Sano Y, Costanzo A, Karin M, Roop DR. p63 induces key target genes required for epidermal morphogenesis. Proc Natl Acad Sci USA 2007; 104:3255-60. [PMID: 17360634]
45. Antonini D, Rossi B, Han R, Minichiello A, Di Palma T, Corrado M, Banfi S, Zannini M, Brissette JL, Missero C. An autoregulatory loop directs the tissue-specific expression of p63 through a long-range evolutionarily conserved enhancer. Mol Cell Biol 2006; 26:3308-18. [PMID: 16581802]