Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene

American Journal of Medical Genetics, Part A

Volumn 146, Issue 23, 2008, Pages 3011-3017

  Graham Jr , John M ^a,j   Visootsak, Jeannie ^b   Dykens, Elisabeth ^c   Huddleston, Lillie ^b   Clark, Robin D ^d   Jones, Kenneth L ^e   Moeschler, John B ^f   Opitz, John M ^g   Morford, Jackie ^h   Simensen, Richard ⁱ   Rogers, R Curtis ⁱ   Schwartz, Charles E ⁱ   Friez, Michael J ⁱ   Stevenson, Roger E ⁱ  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^d LOMA LINDA UNIVERSITY CHILDREN S HOSPITAL   (United States)

^e UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^f DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

^g UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^h FG Syndrome Family Alliance   (United States)

ⁱ GREENWOOD GENETIC CENTER   (United States)

^j CEDARS SINAI MEDICAL CENTER   (United States)

more..

Author keywords

Behavior phenotype; Cognitive disability; FG syndrome; FGS1; Opitz kaveggia syndrome; X linked mental retardation

Indexed keywords

ADOLESCENT; ADULT; AGGRESSION; ANAMNESIS; ANXIETY; ARTICLE; ATTENTION DEFICIT DISORDER; BEHAVIOR CHANGE; CLINICAL ARTICLE; CLINICAL FEATURE; GENE; GENE MUTATION; HEALTH BEHAVIOR; HUMAN; HYPERACTIVITY; MALE; MED12 GENE; MENTAL DISEASE; OPITZ KAVEGGIA SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SOCIALIZATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARGININE; CHILD; CHILD BEHAVIOR DISORDERS; COMMUNICATION; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; RECEPTORS, THYROID HORMONE; SOCIAL BEHAVIOR DISORDERS; SOCIALIZATION; SYNDROME; TRYPTOPHAN; YOUNG ADULT;

EID: 57149097878     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32553     Document Type: Article

References (18)

1. Achenbach TM. 1991. Manual for the child behavior checklist/4-18 and 1991 profile. Burlington, VT: University of Vermont, Department of Psychiatry.
2. Berry-Kravis E, Potanos K. 2004. Psychopharmacology in fragile X syndrome-present and future. Ment Retard Dev Disabil Res Rev 10:42-48.
3. Chapman R, Hesketh L. 2000. Behavioral phenotype of individuals with DS. Ment Retard Dev Disabil Res Rev 6:84-95.
4. Graham JM Jr, Tackels D, Dibbern K, Superneau D, Rogers C, Corning K, Schwartz CE. 1998. FG syndrome: Report of three new families with linkage to Xq12-q22.1. Am J Med Genet 80:145-156.
5. Graham JM Jr, Superneau D, Rogers RC, Corning K, Schwartz CE, Dykens EM. 1999. Clinical and behavioral characteristics in FG syndrome. Am J Med Genet 85:470-475.
6. Graham JM Jr, Rosner B, Dykens E, Visootsak J. 2005. Behavioral features of CHARGE syndrome (Hall-Hittner syndrome): Comparison with Down syndrome, Prader-Willi syndrome and Williams syndrome. Am J Med Genet Part A 133A:240-247.
7. Keller MA, Jones KL, Nyhan W, Francke U, Dixson B. 1976. A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities. J Pediatr 88:589-591.
8. Lyons MJ, Graham JM Jr, Neri G, Hunter AGW, Clark RD, Rogers RC, Moscada M, Simensen R, Dodd J, Dupont B, Friez MJ, Schwartz CE, Stevenson RE. 2008. Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. J Med Genet (in press).
9. McCardle P, Wilson P. 1993. Language and development in FG syndrome with callosal agenesis. J Commun Disord 26:83-100.
10. Opitz JM, Kaveggia EG. 1974. The FG syndrome: An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z Kinderheilk 117:1-18.
11. Opitz JM, Kaveggia EG, Adkins WN Jr, Gilbert EF, Viseskul C, Pettersen JC, Blumberg B. 1982. Studies of malformation syndromes of humans. XXXIIIC: The FG syndrome-further studies on three affected individuals from the FG family. Am J Med Genet 12:147-154.
12. Ozonoff S, Williams BJ, Rauch AM, Opitz JM. 2000. Behavior phenotype of FG syndrome: Cognition, personality, and behavior in eleven affected boys. Am J Med Genet 97:112-118.
13. Reiss S, Havercamp SM. 1998. Toward a comprehensive assessment of fundamental motivation: Factor structure of the Reiss profiles. Psychol Assess 10:97-106.
14. Riccardi VM, Hassler E, Lubinsky MS. 1977. The FG syndrome: Further characterization, report of a third family, and of a sporadic case. Am J Med Genet 1:47-58.
15. Risheg H, Graham JM Jr, Clark RD, Rodgers RC, Opitz JM, Moeschler JB, Pfeiffer 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.
16. Sparrow SS, Cicchetti DV, Balla DA. 2005. Vineland adaptive behavior scales-2nd Edition. Survey Interview Form/Caretaker Rating Form. Livonia, MN: Pearson Assessments.
17. Tarpey PS, Lucy Raymond F, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Andrew Futreal P, Srivastava AK, Stratton MR, Gecz J. 2007. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet 39:1127-1133.
18. Visootsak J, Rosner B, Dykens E, Tartaglia N, Graham JM Jr. 2007. Behavioral phenotype of sex chromosome anomalies: 48, XXYY, compared to 48,XXXY and 49, XXXXY. Am J Med Genet Part A 143A:1198-1203.