Genomic studies in fragile X premutation carriers

Journal of Neurodevelopmental Disorders

Volumn 6, Issue 1, 2014, Pages

  Lozano, Reymundo ^a,b   Hagerman, Randi J ^a,b   Duyzend, Michael ^c   Budimirovic, Dejan B ^d   Eichler, Evan E ^c,e   Tassone, Flora ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d DEPARTMENT OF PATHOLOGY   (United States)

^e HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

ASD; Autism; FMR1 gene; Neurodevelopmental disorders; Neurological disorders; Premutation; Second hit

Indexed keywords

FRAGILE X MENTAL RETARDATION 1 PROTEIN; FRAGILE X MENTAL RETARDATION PROTEIN; TRANSCRIPTION FACTOR FOXP2; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTISM; CHILD; CHROMOSOME 10Q; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; FRAGILE X SYNDROME; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENETIC ANALYSIS; GENOMICS; HEART ATRIUM SEPTUM DEFECT; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR MECHANICS; MOLECULAR PATHOLOGY; NEUROLOGIC DISEASE; PHENOTYPIC VARIATION; PILOT STUDY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROBLEM BEHAVIOR; SCHOOL CHILD; SEIZURE;

EID: 84960129345     PISSN: 18661947     EISSN: 18661955     Source Type: Journal    
DOI: 10.1186/1866-1955-6-27     Document Type: Article

References (53)

1. Tassone F, Iong KP, Tong TH, Lo J, Gane LW, Berry-Kravis E, Nguyen D, Mu LY, Laffin J, Bailey DB Jr, Hagerman RJ: FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med 2012, 4:100.
2. Sullivan AK, Marcus M, Epstein MP, Allen EG, Anido AE, Paquin JJ, Yadav-Shah M, Sherman SL: Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod 2005, 20:402-412.
3. Coffey SM, Cook K, Tartaglia N, Tassone F, Nguyen DV, Pan R, Bronsky HE, Yuhas J, Borodyanskaya M, Grigsby J, Doerflinger M, Hagerman PJ, Hagerman RJ: Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A 2008, 146A:1009-1016.
4. Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang L, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco CM, Berry-Kravis E, Tassone F, Hagerman PJ: Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004, 291:460-469.
5. Farzin F, Perry H, Hessl D, Loesch D, Cohen J, Bacalman S, Gane L, Tassone F, Hagerman P, Hagerman R: Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J Dev Behav Pediatr 2006, 27:S137-S144.
6. Peprah E, He W, Allen E, Oliver T, Boyne A, Sherman SL: Examination of FMR1 transcript and protein levels among 74 premutation carriers. J Hum Genet 2010, 55:66-68.
7. Primerano B, Tassone F, Hagerman RJ, Hagerman PJ, Amaldi F, Bagni C: Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA 2002, 8:1482-1488.
8. Hessl D, Wang JM, Schneider A, Koldewyn K, Le L, Iwahashi C, Cheung K, Tassone F, Hagerman PJ, Rivera SM: Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation. Biol Psychiatry 2011, 70:859-865.
9. Tassone F, Hagerman RJ, Ikle DN, Dyer PN, Lampe M, Willemsen R, Oostra BA, Taylor AK: FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet 1999, 84:250-261.
10. Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ: Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 2000, 66:6-15.
11. Sellier C, Freyermuth F, Tabet R, Tran T, He F, Ruffenach F, Alunni V, Moine H, Thibault C, Page A, Tassone F, Willemsen R, Disney MD, Hagerman PJ, Todd PK, Charlet-Berguerand N: Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. Cell Reprogram 2013, 3:869-880.
12. Chen Y, Tassone F, Berman RF, Hagerman PJ, Hagerman RJ, Willemsen R, Pessah IN: Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet 2010,19(1):196-208.
13. Garcia-Arocena D, Yang JE, Brouwer JR, Tassone F, Iwahashi C, Berry-Kravis EM, Goetz CG, Sumis AM, Zhou L, Nguyen DV, Campos L, Howell E, Ludwig A, Greco C, Willemsen R, Hagerman RJ, Hagerman PJ: Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet 2010, 19:299-312.
14. Napoli E, Ross-Inta C, Wong S, Hung C, Fujisawa Y, Sakaguchi D, Angelastro J, Omanska-Klusek A, Schoenfeld R, Giulivi C: Mitochondrial dysfunction in Pten haplo-insufficient mice with social deficits and repetitive behavior: interplay between Pten and p53. PLoS One 2012, 7:e42504.
15. Ross-Inta C, Omanska-Klusek A, Wong S, Barrow C, Garcia-Arocena D, Iwahashi C, Berry-Kravis E, Hagerman RJ, Hagerman PJ, Giulivi C: Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome. Biochem J 2010, 429:545-552.
16. Todd PK, Oh SY, Krans A, He F, Sellier C, Frazer M, Renoux AJ, Chen KC, Scaglione KM, Basrur V, Elenitoba-Johnson K, Vonsattel JP, Louis ED, Sutton MA, Taylor JP, Mills RE, Charlet-Berguerand N, Paulson HL: CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. Neuron 2013, 78:440-455.
17. Cao Z, Hulsizer S, Cui Y, Pretto DL, Kim KH, Hagerman PJ, Tassone F, Pessah IN: Enhanced asynchronous Ca (2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion. J Biol Chem 2013, 288:13831-13841.
18. Kaplan ES, Cao Z, Hulsizer S, Tassone F, Berman RF, Hagerman PJ, Pessah IN: Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 pre-mutation mouse model. J Neurochem 2012, 123:613-621.
19. Cunningham CL, Martinez Cerdeno V, Navarro Porras E, Prakash AN, Angelastro JM, Willemsen R, Hagerman PJ, Pessah IN, Berman RF, Noctor SC: Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development. Hum Mol Genet 2011, 20:64-79.
20. Eichler EE, Flint J, Gibson G, Kong A, Leal SM, Moore JH, Nadeau JH: Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet 2010, 11:446-450.
21. Girirajan S, Brkanac Z, Coe BP, Baker C, Vives L, Vu TH, Shafer N, Bernier R, Ferrero GB, Silengo M, Warren ST, Moreno CS, Fichera M, Romano C, Raskind WH, Eichler EE: Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet 2011, 7:e1002334.
22. Itsara A, Wu H, Smith JD, Nickerson DA, Romieu I, London SJ, Eichler EE: De novo rates and selection of large copy number variation. Genome Res 2010, 20:1469-1481.
23. American Psychiatric Association Text revision (DSM-IV-TR). In Diagnostic and Statistical Manual of Mental Disorders. 4th edition. Arlington, VA: American Psychiatric Association; 2000.
24. World Health Organization 10th revision (ICD-10). In International Statistical Classification of Diseases and Related Health Problems. Geneva: World Health Organization; 2010.
25. Filipovic-Sadic S, Sah S, Chen L, Krosting J, Sekinger E, Zhang W, Hagerman PJ, Stenzel TT, Hadd A, Latham GJ, Tassone F: A novel FMR1 PCR method for the routine detection of low-abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem 2010, 56:399-408.
26. Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ: A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn 2008, 10:43-49.
27. Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, Adams MD, Myers EW, Li PW, Eichler EE: Recent segmental duplications in the human genome. Science 2002, 297:1003-1007.
28. Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE: Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 2006, 38:1038-1042.
29. Mefford HC, Eichler EE: Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev 2009, 19:196-204.
30. Cooper JD, Zerr T, Kidd JM, Eichler EE, Nickerson DA: Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet 2008, 40:1199-1203.
31. Cooper JD, Coe BP, Girirajan S, Stevens H, Burren OS, Wallace C, Greissl C, Ramos-Lopez E, Hypponen E, Dunger DB, Spector TD, Ouwehand WH, Wang TJ, Badenhoop K, Eichler EE: A copy number variation morbidity map of developmental delay. Nat Genet 2011,14;43(9):838-846.
32. Lord C, Rutter M, DiLavore PC, Risi S: Autism Diagnostic Observation Schedule (ADOS). Torrance, CA: Western Psychological Services; 2000.
33. Lord C, Rutter M, Le Couteur A: Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 1994, 24:659-685.
34. Sparrow SS, Cicchetti DV, Balla DA: Vineland Adaptive Behavior Scales. 2nd edition. Circle Pines, MN: AGS Publishing; 2005.
35. Swanson JM, Kraemer HC, Hinshaw SP, Arnold LE, Conners CK, Abikoff HB, Clevenger W, Davies M, Elliott GR, Greenhill LL, Hechtman L, Hoza B, Jensen PS, March JS, Newcorn JH, Owens EB, Pelham WE, Schiller E, Severe JB, Simpson S, Vitiello B, Wells K, Wigal T, Wu M: Clinical relevance of the primary findings of the MTA: success rates based on severity of ADHD and ODD symptoms at the end of treatment. J Am Acad Child Adolesc Psychiatry 2001, 40:168-179.
36. Roid G, Barram R: Essentials of Stanford-Binet Intelligence Scales (SB5) Assessment. Essentials of Psychological Assessment. Hoboken, NJ: John Wiley & Sons; 2004.
37. Wechsler D: Wechsler Adult Intelligence Scale 3rd Edition (WAIS-III). 3rd edition. Harcourt Assessment: San Antonio, TX; 1997.
38. Wechsler D: Wechsler Adult Intelligence Scale 4th Edition (WAIS-IV). 4th edition. Harcourt Assessment: San Antonio, TX; 2008.
39. Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA: Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet 2010, 42:489-491.
40. Won H, Lee HR, Gee HY, Mah W, Kim JI, Lee J, Ha S, Chung C, Jung ES, Cho YS, Park SG, Lee JS, Lee K, Kim D, Bae YC, Kaang BK, Lee MG, Kim E: Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function. Nature 2012, 486:261-265.
41. Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, et al.: Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009, 459:569-573.
42. Scheuerle A, Wilson K: PARK2 copy number aberrations in two children presenting with autism spectrum disorder: further support of an association and possible evidence for a new microdeletion/microduplication syndrome. Am J Med Genet B Neuropsychiatr Genet 2011, 156B:413-420.
43. Huynh DP, Scoles DR, Ho TH, Del Bigio MR, Pulst SM: Parkin is associated with actin filaments in neuronal and nonneural cells. Ann Neurol 2000, 48:737-744.
44. Rothfuss O, Fischer H, Hasegawa T, Maisel M, Leitner P, Miesel F, Sharma M, Bornemann A, Berg D, Gasser T, Patenge N: Parkin protects mitochondrial genome integrity and supports mitochondrial DNA repair. Hum Mol Genet 2009, 18:3832-3850.
45. Giulivi C, Zhang YF, Omanska-Klusek A, Ross-Inta C, Wong S, Hertz-Picciotto I, Tassone F, Pessah IN: Mitochondrial dysfunction in autism. JAMA 2010, 304:2389-2396.
46. Fukami M, Kirsch S, Schiller S, Richter A, Benes V, Franco B, Muroya K, Rao E, Merker S, Niesler B, Ballabio A, Ansorge W, Ogata T, Rappold GA: A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. Am J Hum Genet 2000, 67:563-573.
47. Cuevas-Covarrubias SA, Gonzalez-Huerta LM: Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis. Br J Dermatol 2008, 158:483-486.
48. Yatsenko SA, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA, Gunderson KL, Ou Z, Chinault AC, Cheung SW: Identification of critical regions for clinical features of distal 10q deletion syndrome. Clin Genet 2009, 76:54-62.
49. Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Yamrom B, Lee YH, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, Stepansky A, Troge J, Andrews P, Bekritsky M, Pradhan K, Ghiban E, Kramer M, Parla J, Demeter R, Fulton LL, Fulton RS, Magrini VJ, Ye K, Darnell JC, Darnell RB, et al.: De novo gene disruptions in children on the autistic spectrum. Neuron 2012, 74:285-299.
50. Girirajan S, Eichler EE: Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 2010, 19:R176-R187.
51. Hagerman R, Hagerman P: Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol 2013, 12:786-798.
52. Delbroek H, Steyaert J, Legius E: An 8.9 year old girl with autism and Gorlin syndrome. Eur J Paediatr Neurol 2011, 15:268-270.
53. Girirajan S, Johnson RL, Tassone F, Balciuniene J, Katiyar N, Fox K, Baker C, Srikanth A, Yeoh KH, Khoo SJ, Nauth TB, Hansen R, Ritchie M, Hertz-Picciotto I, Eichler EE, Pessah IN, Selleck SB: Global increases in both common and rare copy number load associated with autism. Hum Mol Genet 2013, 22:2870-2880.