A novel sporadic 614-Kb duplication of the 22q11.2 chromosome in a child with amyoplasia

Journal of Child Neurology

Volumn 26, Issue 8, 2011, Pages 1005-1008

  Liewluck, Teerin ^a,b   Sacharow, Stephanie J ^a   Fan, Yaoshan ^a   Lopez Alberola, Roberto ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b MAHIDOL UNIVERSITY   (Thailand)

Author keywords

22q11.2 microduplication syndrome; amyoplasia; arthrogryposis; TUBA8; USP18

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN;

AMYOPLASIA; ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CAST APPLICATION; CENTROMERE; CHROMOSOME 22Q; CHROMOSOME DUPLICATION; CHROMOSOME MICRODUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; DIGEORGE SYNDROME; ELECTROMYOGRAPHY; GENE; GENE DELETION; GENE LOCATION; GENETIC ANALYSIS; HEMANGIOMA; HIGH ARCHED PALATE; HUMAN; INFANT; MALE; MICROARRAY ANALYSIS; MUSCLE ATROPHY; MUSCLE CONTRACTURE; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REHABILITATION CARE; TENDON REFLEX; TUBA8 GENE; USP18 GENE; VELOCARDIOFACIAL SYNDROME;

ARTHROGRYPOSIS; CHROMOSOMES, HUMAN, PAIR 22; ENDOPEPTIDASES; GENE DUPLICATION; HUMANS; INFANT; MALE; TUBULIN;

EID: 79960663010     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810394846     Document Type: Article

References (13)

1. Hall JG, Reed SD, Driscoll EP. Part 1. Amyoplasia: a common, sporadic condition with congenital contractures. Am J Med Genet. 1983 ; 15: 571-590 (Pubitemid 13076754)
2. Reid CO, Hall JG, Anderson C, et al. Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk. Am J Med Genet. 1986 ; 24: 701-710 (Pubitemid 16056119)
3. Hall JG, Vincent A Neuromuscular Disorders of Infancy, Childhood, and Adolescence. Jones HR De Vivo D Darras B, ed. Philadelphia, PA: Butterworth Heinemann ; 2003: 123-141.
4. Babcock M, Pavlicek A, Spiteri E, et al. Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution. Genome Res. 2003 ; 13: 2519-2532 (Pubitemid 37541141)
5. Portnoi MF. Microduplication 22q11.2: a new chromosomal syndrome. Eur J Med Genet. 2009 ; 52: 88-93
6. Edelmann L, Pandita RK, Spiteri E, et al. A common molecular basis of rearrangement disorders on chromosome 22q11. Hum Mol Genet. 1999 ; 8: 1157-1167 (Pubitemid 29328983)
7. Stanchi F, Corso V, Scannapieco P, et al. TUBA8: a new tissue-specific isoform of alpha-tubulin that is highly conserved in human and mouse. Biochem Biophys Res Commun. 2000 ; 270: 1111-1118 (Pubitemid 30444840)
8. Genini S, Nguyen TT, Malek M, et al. Radiation hybrid mapping of 18 positional and physiological candidate genes for arthrogryposis multiplex congenita on porcine chromosome 5. Anim Genet. 2006 ; 37: 239-244 (Pubitemid 43806491)
9. Abdollahi MR, Morrison E, Sirey T, et al. Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. Am J Hum Genet. 2009 ; 85: 737-744
10. Poduri A, Chitsazzadeh V, D'Arrigo S, et al. The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. Brain Dev. 2010 ; 32: 550-555
11. Dao CT, Zhang DE. ISG15: a ubiquitin-like enigma. Front Biosci. 2005 ; 10: 2701-2722 (Pubitemid 40905270)
12. Schwer H, Liu LQ, Zhou L, et al. Cloning and characterization of a novel human ubiquitin-specific protease, a homologue of murine UBP43 (Usp18). Genomics. 2000 ; 65: 44-52 (Pubitemid 30249914)
13. Ritchie KJ, Malakhov MP, Hetherington CJ, et al. Dysregulation of protein modification by ISG15 results in brain cell injury. Genes Dev. 2002 ; 16: 2207-2212 (Pubitemid 35013082)