Chromosome 15q11-q13 duplication syndrome

Disease ID:214
Name:Chromosome 15q11-q13 duplication syndrome
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Database Links
OMIM: 608636
Orphanet: ORPHA106

Targets

GABAA receptor γ3 subunit
Role:  Mental retardation in 75%, seizures in 15-30%, EEG abnormalities in 20-50%, impaired social interactions, impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures, impaired ability to form peer relationships, impaired language development. Lack of spontaneous play, restrictive behavior, interests, and activities, stereotyped, repetitive behavior, inflexible adherence to routines or rituals, increased serum serotonin in 25%, onset by 3 years of age

Male to female ratio 4:1

Occurs in 2-5 per 10,000 individuals
References:  1-8
Mutations:  GABAA receptor γ3 subunit is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Chromosome 15q11-q13 duplication syndrome

References

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1. Cook EH, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E. (1997) Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am. J. Hum. Genet., 60 (4): 928-34. [PMID:9106540]

2. Filipek PA, Juranek J, Smith M, Mays LZ, Ramos ER, Bocian M, Masser-Frye D, Laulhere TM, Modahl C, Spence MA et al.. (2003) Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Ann. Neurol., 53 (6): 801-4. [PMID:12783428]

3. Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM. (2009) Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number. J. Med. Genet., 46 (2): 86-93. [PMID:18835857]

4. Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM. (2007) 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. Hum. Mol. Genet., 16 (6): 691-703. [PMID:17339270]

5. Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI et al.. (2009) Population analysis of large copy number variants and hotspots of human genetic disease. Am. J. Hum. Genet., 84 (2): 148-61. [PMID:19166990]

6. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ et al.. (2009) Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J. Med. Genet., 46 (4): 242-8. [PMID:18805830]

7. Thomas JA, Johnson J, Peterson Kraai TL, Wilson R, Tartaglia N, LeRoux J, Beischel L, McGavran L, Hagerman RJ. (2003) Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment. Am. J. Med. Genet. A, 119A (2): 111-20. [PMID:12749048]

8. van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M et al.. (2009) Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J. Med. Genet., 46 (8): 511-23. [PMID:19372089]