Document Detail


Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.
MedLine Citation:
PMID:  18973276     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Opitz and Kaveggia [Opitz and Kaveggia (1974); Z Kinderheilk 117:1-18] reported on a family of five affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus and hypotonia. Risheg et al. [Risheg et al. (2007); Nat Genet 39:451-453] identified an identical mutation (p.R961W) in MED12 in six families with Opitz-Kaveggia syndrome, including a surviving affected man from the family reported in 1974. The previously defined behavior phenotype of hyperactivity, affability, and excessive talkativeness is very frequent in young boys with this mutation, along with socially oriented, attention-seeking behaviors. We present case studies of two older males with FG syndrome and the p.R961W mutation to illustrate how their behavior changes with age. We also characterize the behavior of eight additional individuals with FG syndrome and this recurrent mutation in MED12 using the Vineland Adaptive Behavior Scales 2nd edition, the Reiss Profile of Fundamental Goals and Motivation Sensitivities, and the Achenbach Child Behavior Checklist. Males with this MED12 mutation had deficits in communication skills compared to their socialization and daily living skills. In addition, they were at increased risk for maladaptive behavior, with a propensity towards aggression, anxiety, and inattention. Based on the behavior phenotype in 10 males with this recurrent MED12 mutation, we offer specific recommendations and interventional strategies. Our findings reinforce the importance of testing for the p.R961W MED12 mutation in males who are suspected of having developmental and behavioral problems with a clinical phenotype that is consistent with FG syndrome.
Authors:
John M Graham; Jeannie Visootsak; Elisabeth Dykens; Lillie Huddleston; Robin D Clark; Kenneth L Jones; John B Moeschler; John M Opitz; Jackie Morford; Richard Simensen; R Curtis Rogers; Charles E Schwartz; Michael J Friez; Roger E Stevenson
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2008-11-27     Completed Date:  2008-12-12     Revised Date:  2013-06-05    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  3011-7     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2008 Wiley-Liss, Inc.
Affiliation:
Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  psychology*
Adolescent
Adult
Amino Acid Substitution
Arginine / genetics,  metabolism
Child
Child Behavior Disorders / diagnosis*,  etiology,  genetics
Communication
Humans
Male
Mediator Complex
Mental Retardation, X-Linked / complications,  genetics,  psychology*
Receptors, Thyroid Hormone / genetics*
Social Behavior Disorders / diagnosis*,  etiology,  genetics
Socialization
Syndrome
Tryptophan / genetics,  metabolism
Young Adult
Grant Support
ID/Acronym/Agency:
5-T32-GM08243/GM/NIGMS NIH HHS; HD22657/HD/NICHD NIH HHS; HD262020/HD/NICHD NIH HHS; K12 RR025009,/RR/NCRR NIH HHS; L32 MD000625/MD/NIMHD NIH HHS; M01-RR00425/RR/NCRR NIH HHS; P01 HD022657-12/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/MED12 protein, human; 0/Mediator Complex; 0/Receptors, Thyroid Hormone; 73-22-3/Tryptophan; 74-79-3/Arginine
Comments/Corrections

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