Mitochondrial disease in 22q13 duplication syndrome

Journal of Child Neurology

Volumn 27, Issue 7, 2012, Pages 942-949

  Frye, Richard E ^a  

^a ARKANSAS CHILDREN S HOSPITAL   (United States)

Author keywords

22q13 duplication; Autism spectrum disorder; Epilepsy; Mitochondrial disorder

Indexed keywords

SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE;

ARTICLE; AUTISM; CASE REPORT; CHILD; CHROMOSOME 22Q; CHROMOSOME DUPLICATION; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FACE DYSMORPHIA; FEMALE; FIBROBLAST; GROWTH RETARDATION; HUMAN; MICROCEPHALY; MUSCLE HYPOTONIA; MUSCLE TISSUE; PRIORITY JOURNAL; RESPIRATORY CHAIN; WHITE MATTER LESION;

CHILD, PRESCHOOL; CHROMOSOME DISORDERS; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 22; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MICROCEPHALY; MUSCLE, SKELETAL;

EID: 84862854473     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811429858     Document Type: Article

References (40)

1. Diagnostic and Statistical Manual of Mental Disorders. 4 th ed. Washington, DC: American Psychiatric Association; 1994. Washington, DC: American Psychiatric Association ; 1994 :
2. Frye RE, Rossignol DA. Mitochondrial dysfunction can connect the diverse medical symptoms associated with autism spectrum disorders. Pediatr Res. 2011 ; 69 ((5 pt 2)). 41R - 47R
3. Rossignol D, Frye RE. Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis [published online ahead of print March 25, 2001]. Mol Psychiatry. :
4. Herbert MR. Contributions of the environment and environmentally vulnerable physiology to autism spectrum disorders. Curr Opin Neurol. 2010 ; 23: 103-110
5. Herbert MR. Autism: a brain disorder or a disorder that affects the brain. Clin Neuropsychiatry. 2005 ; 2: 354-379
6. Scaglia F, Zhang S, Tan Z, Fouladi N, Schmitt E, Wong L-J American Society of Human Genetics 59th Annual Meeting. Honolulu, Hawaii ; 2009 :
7. Papadopoulou LC, Sue CM, Davidson MM, et al. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet. 1999 ; 23: 333-337 (Pubitemid 29526433)
8. Jaksch M, Ogilvie I, Yao J, et al. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Hum Mol Genet. 2000 ; 9: 795-801 (Pubitemid 30162764)
9. Tay SK, Shanske S, Kaplan P, DiMauro S. Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality. Arch Neurol. 2004 ; 61: 950-952 (Pubitemid 38747340)
10. Verdijk RM, de Krijger R, Schoonderwoerd K, et al. Phenotypic consequences of a novel SCO2 gene mutation. Am J Med Genet. 2008 ; 146A: 2822-2827
11. Filipek PA, Juranek J, Smith M, et al. Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Ann Neurol. 2003 ; 53: 801-804 (Pubitemid 36622519)
12. Lord C, Risi S, Lambrecht L, et al. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord. 2000 ; 30: 205-223
13. Kirby DM, Thorburn DR, Turnbull DM, Taylor RW. Biochemical assays of respiratory chain complex activity. Methods Cell Biol. 2007 ; 80: 93-119
14. Condie J, Goldstein J, Wainwright MS. Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46, XY male with a de novo MECP2 gene mutation. J Child Neurol. 2010 ; 25: 633-636
15. Frye RE. Autistic disorder with complex IV overactivity: a new mitochondrial syndrome. J Pediatr Neurol. :
16. Roe CR, Roe DS. Recent developments in the investigation of inherited metabolic disorders using cultured human cells. Mol Genet Metab. 1999 ; 68: 243-257 (Pubitemid 29501097)
17. Corydon MJ, Vockley J, Rinaldo P, et al. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res. 2001 ; 49: 18-23 (Pubitemid 32014994)
18. Wong LJ. Molecular genetics of mitochondrial disorders. Dev Disabil Res Rev. 2010 ; 16: 154-162
19. Wong LJ. Pathogenic mitochondrial DNA mutations in protein-coding genes. Muscle Nerve. 2007 ; 36: 279-293
20. Wong LJ, Cobb BR, Chen TJ. Molecular analysis of mitochondrial DNA point mutations by polymerase chain reaction. Methods Mol Biol. 2006 ; 336: 135-143
21. Bai RK, Perng CL, Hsu CH, Wong LJ. Quantitative PCR analysis of mitochondrial DNA content in patients with mitochondrial disease. Ann N Y Acad Sci. 2004 ; 1011: 304-309
22. Bai RK, Wong LJ. Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease. J Mol Diagn. 2005 ; 7: 613-622
23. Morava E, van den Heuvel L, Hol F, et al. Mitochondrial disease criteria: diagnostic applications in children. Neurology. 2006 ; 67: 1823-1826 (Pubitemid 44900760)
24. Lopez LC, Akman HO, Garcia-Cazorla A, et al. Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. 2009 ; 18: 714-722
25. Taanman JW, Daras M, Albrecht J, et al. Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Neuromuscul Disord. 2009 ; 19: 151-154
26. Yamazaki N, Shinohara Y, Shima A, Yamanaka Y, Terada H. Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I. Biochim Biophys Acta. 1996 ; 1307: 157-161 (Pubitemid 26191339)
27. Ji S, You Y, Kerner J, et al. Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouse. Mol Genet Metab. 2008 ; 93: 314-322 (Pubitemid 351192347)
28. Yan Q, Guan MX. Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate- methyltransferase. Biochim Biophys. 2004 ; 1676: 119-126 (Pubitemid 38121462)
29. Prezant TR, Agapian JV, Bohlman MC, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet. 1993 ; 4: 289-294 (Pubitemid 23205179)
30. Zeharia A, Shaag A, Pappo O, et al. Acute infantile liver failure due to mutations in the TRMU gene. Am J Hum Genet. 2009 ; 85: 401-407
31. Ton C, Hwang DM, Dempsey AA, Liew CC. Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. Biochem Biophys Res Commun. 1997 ; 241: 589-594 (Pubitemid 28020146)
32. Okamoto N, Kubota T, Nakamura Y, et al. 22q13 Microduplication in two patients with common clinical manifestations: a recognizable syndrome?. Am J Med Genet. 2007 ; 143A: 2804-2809 (Pubitemid 350228741)
33. Pramparo T, de Gregori M, Gimelli S, et al. A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. Am J Med Genet. 2008 ; 146A: 1754-1760 (Pubitemid 351975488)
34. Peeters H, Vermeesch J, Fryns JP. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism. Genet Couns. 2008 ; 19: 365-371
35. Hou JW. Trisomy chromosome (22)(q13.1-qter) as a result of paternal inversion (22)(p11q13.1) proved using region-specific FISH probes. Chang Gung Med J. 2005 ; 28: 657-661
36. Koolen DA, Reardon W, Rosser EM, et al. Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation. Eur J Hum Genet. 2005 ; 13: 1019-1024 (Pubitemid 43073608)
37. Finsterer J. Central nervous system manifestations of mitochondrial disorders. Acta Neurol Scand. 2006 ; 114: 217-238 (Pubitemid 44337240)
38. Clay HB, Sillivan S, Konradi C. Mitochondrial dysfunction and pathology in bipolar disorder and schizophrenia. Int J Dev Neurosci. 2011 ; 29: 311-324
39. Jacquemont ML, Sanlaville D, Redon R, et al. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet. 2006 ; 43: 843-849 (Pubitemid 44787109)
40. Bonaglia MC, Giorda R, Beri S, et al. Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid Syndrome. PLoS Genet. 2011 ; 7: e1002173