FG syndrome: The FGS2 locus revisited

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 6, 2012, Pages 1489-1492

  Perche, Olivier ^a,b   Laudier, Béatrice ^b   Menuet, Arnaud ^a   Odent, Sylvie ^c   Laumonnier, Frederic ^d   Briault, Sylvain ^a,b  

^a UNIVERSITÉ D'ORLÉANS   (France)

^b Centre Hospitalier Regional d'Orleans   (France)

^c SERVICE DE RHUMATOLOGIE   (France)

^d UNIVERSITÉ DE TOURS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FILAMIN A; METHYL CPG BINDING PROTEIN 2;

ARD1 GENE; ARHGAP4 GENE; EMD GENE; EMERY DREIFUSS MUSCULAR DYSTROPHY; FACE DYSMORPHIA; FGS2 GENE; FILAMIN A GENE; GENE; GENE ACTIVATION; GENE DOSAGE; GENE DUPLICATION; GENE EXPRESSION REGULATION; GENE LOCUS; GENE OVEREXPRESSION; GENE REARRANGEMENT; GENE REPRESSION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LETTER; MECP2 GENE; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; NONHUMAN; PRIORITY JOURNAL; SYNDROME FG; TKTL1 GENE; TRANSCRIPTION REGULATION; TRANSCRIPTOMICS; UPREGULATION; X CHROMOSOME LINKED DISORDER;

AGENESIS OF CORPUS CALLOSUM; ANUS, IMPERFORATE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; CONSTIPATION; FAMILY; GENETIC LOCI; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MUSCLE HYPOTONIA; MUTATION;

EID: 84861225038     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35322     Document Type: Letter

References (24)

1. Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest H, Crollius A, Carrie F, Fauchereau M, Cherry M, Braiult S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J. 1998. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 392: 923-926.
2. Bittel DC, Kibiryeva N, Butler MG. 2007. Whole genome microarray analysis of gene expression in subjects with fragile X syndrome. Genet Med 9: 464-472.
3. Briault S, Hill R, Shrimpton A, Zhu D, Till M, Ronce N, Margaritte-Jeannin P, Baraitser M, Middleton-Price H, Malcolm S, Thompson E, Hoo J, Wilson G, Romano C, Guichet A, Pembrey M, Fontes M, Poustka A, Moraine C. 1997. A gene for FG syndrome maps in the Xq12-q21.31 region. Am J Med Genet 73: 87-90.
4. Briault S, Odent S, Lucas J, Le Merrer M, Turleau C, Munnich A, Moraine C. 1999. Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome. Am J Med Genet 86: 112-114.
5. Briault S, Villard L, Rogner U, Coy J, Odent S, Lucas J, Passage E, Zhu D, Shrimpton A, Pembrey M, Till M, Guichet A, Dessay S, Fontes M, Poustka A, Moraine C. 2000. Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: A second FG locus [FGS2]? Am J Med Genet 95: 178-181.
6. Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY. 2008. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 320: 1224-1229.
7. Dessay S, Moizard MP, Gilardi JL, Opitz JM, Middleton-Price H, Pembrey M, Moraine C, Briault S. 2002. FG syndrome: Linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]. Am J Med Genet Part A 112A: 6-11.
8. Ellis JA, Yates JR, Kendrick-Jones J, Brown CA. 1999. Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. Hum Genet 104: 262-268.
9. Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA. 1998. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 21: 1315-1325.
10. Jehee FS, Rosenberg C, Krepischi-Santos AC, Kok F, Knijnenburg J, Froyen G, Vianna-Morgante AM, Opitz JM, Passos-Bueno MR. 2005. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. Am J Med Genet Part A 139A: 221-226.
11. Luikenhuis S, Giacometti E, Beard CF, Jaenisch R. 2004. Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice. Proc Natl Acad Sci USA 101: 6033-6038.
12. Opitz JM, Richieri-da Costa A, Aase JM, Benke PJ. 1988. FG syndrome update 1988: Note of 5 new patients and bibliography. Am J Med Genet 30: 309-328.
13. Opitz JM, Smith JF, Santoro L. 2008. The FG syndromes (Online Mendelian Inheritance in Man 305450): Perspective in 2008. Adv Pediatr 55: 123-170.
14. Piluso G, Carella M, D'Avanzo M, Santinelli R, Carrano EM, D'Avanzo A, D'Adamo AP, Gasparini P, Nigro V. 2003. Genetic heterogeneity of FG syndrome: A fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. Hum Genet 112: 124-130.
15. Piluso G, D'Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico M, Aurino S, Schwartz CE, Neri G, Nigro V. 2009. A missense mutation in CASK causes FG syndrome in an Italian family. Am J Hum Genet 8: 162-177.
16. Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ. 2007. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet 39: 451-453.
17. Robertson SP, Twigg SRF, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OWJ, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AOM, OPD-spectrum Disorders Clinical Collaborative Group. 2003. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nature Genet 33: 487-491.
18. Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Schank C, Fain HD, Robinson R, Dalley B, Chin S, South ST, Pusher TJD, Jorde LB, Hakonarson H, Lillehaug JR, Biesecker LG, Yandell M, Arnesen T, Lyon GJ. 2011. Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet 89: 28-43.
19. Sheen VL, Feng Y, Graham D, Takafuta T, Shapiro SS, Walsh CA. 2002. Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. Hum Mol Genet 11: 2845-2854.
20. Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA. 2005. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology 64: 254-262.
21. Swanberg SE, Nagarajan RP, Peddada S, Yasui DH, LaSalle JM. 2009. Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism. Hum Mol Genet 18: 525-534.
22. Unger S, Mainberger A, Spitz C, Bahr A, Zeschnigk C, Zabel B, Superti-Furga A, Morris-Rosendahl DJ. 2007. Filamin A mutation is one cause of FG syndrome. Am J Med Genet Part A 143A: 1876-1879.
23. Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G. 2005. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 77: 442-453.
24. Veltman JA, Yntema HG, Lugtenberg D, Arts H, Briault S, Huys EH, Osoegawa K, de Jong P, Brunner HG, Geurts vanKessel A, van Bokhoven H, Schoenmakers EF. 2004. High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation. J Med Genet 41: 425-432.