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Gene Review

FGS1  -  FG syndrome 1

Homo sapiens

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Disease relevance of FGS1


Psychiatry related information on FGS1

  • Specifically, higher rates of agreeableness and extraversion were not confirmed, though these constructs do not correspond perfectly with the traits of affability and gregariousness described in earlier published case studies of FG syndrome [6].

High impact information on FGS1


Biological context of FGS1


Anatomical context of FGS1

  • Because tethered spinal cord syndrome (TCS) has similar symptoms, we evaluated imaging for TCS in patients with FG syndrome [9].
  • The alpha4 gene lies in the linkage interval for FG syndrome, characterized by skeletal muscle and brain defects that coincide closely to the expression pattern of alpha4 [15].
  • Some of these patients with FGS require decompression surgery, but the decision to operate can be difficult because of their developmental delay, difficulties with language skills, general fatigue, possibility of upper motor neuron dysfunction, behavioral problems, or failure to thrive, which may mask the symptoms of a Chiari I malformation [16].
  • Serial evaluations of a patient with FG syndrome, whose sole central nervous system anomaly was agenesis of the corpus callosum, showed a consistent pattern over time [17].

Other interactions of FGS1

  • FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3] [11].
  • Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family [10].
  • Overlap in the clinical features of FG and Opitz GBBB syndromes warrants investigation of Alpha 4 as a candidate for causing FG syndrome [18].
  • Since FG and Opitz G/BBB syndromes share many manifestations we considered MID2 a candidate gene for FG syndrome [14].
  • During linkage analysis in a family with FG syndrome, a rare condition mapped to Xq12-q22.1, we detected the presence of an unusually small AR allele segregating within the pedigree [19].

Analytical, diagnostic and therapeutic context of FGS1


  1. A gene for FG syndrome maps in the Xq12-q21.31 region. 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. Am. J. Med. Genet. (1997) [Pubmed]
  2. Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]? 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. Am. J. Med. Genet. (2000) [Pubmed]
  3. X-linked syndrome of mental retardation, short stature, and hypertelorism: a new syndrome or a further example of the FG syndrome? Bottani, A. Am. J. Med. Genet. (1994) [Pubmed]
  4. Fragile X family with unusual digital and facial abnormalities, cleft lip and palate, and epilepsy. Loesch, D.Z., Hay, D.A., Sheffield, L.J. Am. J. Med. Genet. (1992) [Pubmed]
  5. Esophageal dysmotility in brothers with an FG-like syndrome. Smith, R.L., Edwards, M.J., Notaras, E., O'Loughlin, E.V. Am. J. Med. Genet. (2000) [Pubmed]
  6. Behavior phenotype of FG syndrome: cognition, personality, and behavior in eleven affected boys. Ozonoff, S., Williams, B.J., Rauch, A.M., Opitz, J.O. Am. J. Med. Genet. (2000) [Pubmed]
  7. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Risheg, H., Graham, J.M., Clark, R.D., Rogers, R.C., Opitz, J.M., Moeschler, J.B., Peiffer, A.P., May, M., Joseph, S.M., Jones, J.R., Stevenson, R.E., Schwartz, C.E., Friez, M.J. Nat. Genet. (2007) [Pubmed]
  8. Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome. Burn, J., Martin, N. J. Med. Genet. (1983) [Pubmed]
  9. Midline defects in FG syndrome: does tethered spinal cord contribute to the phenotype? Wang, R., Visootsak, J., Danielpour, M., Graham, J.M. J. Pediatr. (2005) [Pubmed]
  10. Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. Piluso, G., Carella, M., D'Avanzo, M., Santinelli, R., Carrano, E.M., D'Avanzo, A., D'Adamo, A.P., Gasparini, P., Nigro, V. Hum. Genet. (2003) [Pubmed]
  11. FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]. Dessay, S., Moizard, M.P., Gilardi, J.L., Opitz, J.M., Middleton-Price, H., Pembrey, M., Moraine, C., Briault, S. Am. J. Med. Genet. (2002) [Pubmed]
  12. Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome. Raynaud, M., Dessay, S., Ronce, N., Opitz, J., Pembrey, M., Romano, C., Moraine, C., Briault, S. Eur. J. Hum. Genet. (2003) [Pubmed]
  13. Fragile X mutation and FG syndrome-like phenotype. Piussan, C., Mathieu, M., Berquin, P., Fryns, J.P. Am. J. Med. Genet. (1996) [Pubmed]
  14. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. Jehee, F.S., Rosenberg, C., Krepischi-Santos, A.C., Kok, F., Knijnenburg, J., Froyen, G., Vianna-Morgante, A.M., Opitz, J.M., Passos-Bueno, M.R. Am. J. Med. Genet. A (2005) [Pubmed]
  15. Developmental expression of alpha4 protein phosphatase regulatory subunit in tissues affected by Opitz syndrome. Everett, A.D., Brautigan, D.L. Dev. Dyn. (2002) [Pubmed]
  16. Chiari I malformation in patients with FG syndrome. Gottfried, O.N., Hedlund, G.L., Opitz, J.M., Walker, M.L. J. Neurosurg. (2005) [Pubmed]
  17. Language and development in FG syndrome with callosal agenesis. McCardle, P., Wilson, B. Journal of communication disorders. (1993) [Pubmed]
  18. MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders. Short, K.M., Hopwood, B., Yi, Z., Cox, T.C. BMC Cell Biol. (2002) [Pubmed]
  19. Somatic instability of the androgen receptor CAG repeat in a normal female. Sharp, A., Hurst, J. Am. J. Med. Genet. A (2003) [Pubmed]
  20. A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13. Graham, J.M., Wheeler, P., Tackels-Horne, D., Lin, A.E., Hall, B.D., May, M., Short, K.M., Schwartz, C.E., Cox, T.C. Am. J. Med. Genet. A (2003) [Pubmed]
  21. Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families. Schrander-Stumpel, C., Höweler, C., Jones, M., Sommer, A., Stevens, C., Tinschert, S., Israel, J., Fryns, J.P. Am. J. Med. Genet. (1995) [Pubmed]
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