Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment

Pediatrics

Volumn 129, Issue 1, 2012, Pages

  Palka, Chiara ^a   Alfonsi, Melissa ^a   Mohn, Angelika ^a   Cerbo, Renato ^b   Franchi, Paolo Guanciali ^a,c   Fantasia, Donatella ^a   Morizio, Elisena ^a   Stuppia, Liborio ^a,d   Calabrese, Giuseppe ^a,b,c   Zori, Roberto ^e   Chiarelli, Francesco ^a   Palka, Giandomenico ^a,c  

^a UNIVERSITY OF CHIETI   (Italy)

^b Reference Regional Centre for Autism   (Italy)

^c SPIRITO SANTO HOSPITAL   (Italy)

^d CNR   (Italy)

^e UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

7q31 deletion; aCGH; Childhood apraxia of speech; FOXP2; Mosaicism

Indexed keywords

APRAXIA; ARTICLE; BODY DYSMORPHIC DISORDER; CASE REPORT; CHILD; CHROMOSOME 7Q; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; FOXP2 GENE; GENE; HAPLOINSUFFICIENCY; HUMAN; KARYOTYPE; LANGUAGE DISABILITY; MOSAIC 7Q31 DELETION; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

APRAXIAS; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; INTELLECTUAL DISABILITY; LANGUAGE DISORDERS; MOSAICISM; SPEECH DISORDERS;

EID: 84855256715     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2010-2094     Document Type: Article

References (41)

1. Shriberg LD, Tomblin JB, McSweeny JL. Prevalence of speech delay in 6-year-old children and comorbidity with language impairment. J Speech Lang Hear Res. 1999;42(6):1461-1481
2. Campbell TF, Dollaghan CA, Rockette HE, et al. Risk factors for speech delay of unknown origin in 3-year-old children. Child Dev. 2003;74(2):346-357 (Pubitemid 37244653)
3. American Speech-Language-Hearing Association. (2007). Childhood Apraxia of Speech (position statement). Available at: www. asha.org/docs/html/PS2007- 00277.html. Accessed February 2011
4. Vargha-Khadem F, Watkins K, Alcock K, Fletcher P, Passingham R. Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder. Proc Natl Acad Sci USA. 1995;92(3):930-933
5. Bishop DV, North T, Donlan C. Genetic basis of specific language impairment: evidence from a twin study. Dev Med Child Neurol. 1995;37(1):56-71
6. Tomblin JB, Buckwalter PR. Heritability of poor language achievement among twins. J Speech Lang Hear Res. 1998;41(1): 188-199 (Pubitemid 28081261)
7. Fisher SE, Vargha-Khadem F, Watkins KE, Monaco AP, Pembrey ME. Localisation of a gene implicated in a severe speech and language disorder. Nat Genet. 1998;18(2): 168-170 (Pubitemid 28082466)
8. Lai CS, Fisher SE, Hurst JA, et al. The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. Am J Hum Genet. 2000;67(2):357-368 (Pubitemid 30616741)
9. Lai CS, Fisher SE, Hurst JA, Vargha- Khadem F, Monaco AP. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature. 2001;413(6855): 519-523 (Pubitemid 32938749)
10. Hurst JA, Baraitser M, Auger E, Graham F, Norell S. An extended family with a dominantly inherited speech disorder. Dev Med Child Neurol. 1990;32(4):352-355 (Pubitemid 20182238)
11. Shu W, Yang H, Zhang L, Lu MM, Morrisey EE. Characterization of a new subfamily of winged-helix/forkhead (Fox) genes that are expressed in the lung and act as transcriptional repressors. J Biol Chem. 2001;276(29): 27488-27497
12. Fisher SE, Scharff C. FOXP2 as a molecular window into speech and language. Trends Genet. 2009;25(4):166-177
13. Caylak E. A review of association and linkage studies for genetical analyses of learning disorders. Am J Med Genet B Neuropsychiatr Genet. 2007;144B(7):923-943 (Pubitemid 47547995)
14. MacDermot KD, Bonora E, Sykes N, et al. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am J Hum Genet. 2005;76(6): 1074-1080 (Pubitemid 40705441)
15. Feuk L, Kalervo A, Lipsanen-Nyman M, et al. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet. 2006;79(5):965-972 (Pubitemid 44763411)
16. Shriberg LD, Ballard KJ, Tomblin JB, Duffy JR, Odell KH, Williams CA. Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. J Speech Lang Hear Res. 2006;49 (3):500-525 (Pubitemid 46940097)
17. Ayraud N, Rovinski J, Lambert JC, Galiana A. Interstitial deletion of the long arm of chromosome 7 in a female child with leprechaunism. Ann Genet. 1976;19(4):265-268 (Pubitemid 8017604)
18. Higginson G, Weaver DD, Magenis RE, Prescott GH, Haag C, Hepburn DJ. Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies. Clin Genet. 1976;10(5):307-312
19. Dennis NR, Neu RL, Bannerman RM. A partial 7q monosomy in an infant with multiple anomalies. Am J Hum Genet. 1977;29:37A
20. Franceschini P, Silengo MC, Davi GF, Santoro MA, Prandi G, Fabris C. Interstitial deletion of the long arm of chromosome 7 46,XX,del (7)(pter leads to q2200:q3200 leads to qter). Hum Genet. 1978;44(3):345-348 (Pubitemid 9016610)
21. Klep-de Pater JM, Bijlsma JB, Bleeker- Wagemakers EM, de France HF, de Vries- Ekkers CM. Two cases with different deletions of the long arm of chromosome 7. J Med Genet. 1979;16(2):151-154 (Pubitemid 9164912)
22. Hull DR, Kessler KK, Juberg RC. 7q interstitial deletion resulting in failure to thrive and peculiar cry: comparison with previously reported 7q1 and 7q2 deletions. Am J Hum Genet. 1979;31:97A
23. Serup L. Interstitial deletion of the long arm of chromosome 7. Hum Genet. 1980;54(1): 19-23 (Pubitemid 10095854)
24. Stallard R, Juberg RC. Partial monosomy 7q syndrome due to distal interstitial deletion. Hum Genet. 1981;57(2):210-213 (Pubitemid 11150235)
25. Abuelo DN, Padre-Mendoza T. Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32). J Med Genet. 1982;19(6):473-476 (Pubitemid 13167556)
26. Young RS, Weaver DD, Kukolich MK, et al. Terminal and interstitial deletions of the long arm of chromosome 7: a review with five new cases. Am J Med Genet. 1984;17 (2):437-450 (Pubitemid 14189145)
27. Martin-Pont B, Pilczer C, Dandine M, Tamboise A. De novo interstitial deletion of the long arm of chromosome 7:46,XY,del(7) (q23;q32). Ann Genet. 1985;28(4):251-253 (Pubitemid 16179160)
28. Sarda P, Turleau C, Cabanis MO, Jalaguier J, de Grouchy J, Bonnet H. Interstitial deletion in the long arm of chromosome 7. Ann Genet. 1988;31(4):258-261 (Pubitemid 19017769)
29. Fagan K, Gill A, Henry R, Wilkinson I, Carey B. A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase. J Med Genet. 1989;26 (10):619-625 (Pubitemid 19239509)
30. Morey MA, Higgins RR. Ectro-amelia syndrome associated with an interstitial deletion of 7q. Am J Med Genet. 1990;35(1):95-99 (Pubitemid 20027826)
31. Montgomery TL, Wyllie J, Oley C. Ectrodactyly and glaucoma associated with a 7q21.2- q31.2 interstitial deletion. Clin Dysmorphol. 2000;9(4):235-239
32. Zeesman S, Nowaczyk MJ, Teshima I, et al. Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. Am J Med Genet A. 2006; 140(5):509-514 (Pubitemid 43376324)
33. Lennon PA, Cooper ML, Peiffer DA, et al. Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. Am J Med Genet A. 2007;143A(8):791-798
34. Shaffer LG, Bejjani BA. A cytogeneticist's perspective on genomic microarrays. Hum Reprod Update. 2004;10(3):221-226 (Pubitemid 38744867)
35. Cheung SW, Shaw CA, Scott DA, et al. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007;143A(15):1679-1686 (Pubitemid 47217264)
36. European Cytogeneticists Association. Euro- GenTest. Cytogenetics guidelines and quality assurance, 2006. Available at: http://www. eurogentest.org/web/files/public/unit1/ceqa/ NL17z7Guidelines%20v1.2.pdf
37. Wechsler D. Manual for the Wechsler Intelligence Scale for Children - Revised. New York: Psychological Corporation; 1974
38. Dunn LM, Dunn LM. Peabody Picture Vocabulary Test - III. Circle Pines, MN: American Guidance Services; 1997
39. Gugliotta M, Bisiacchi PS, Cendron M, Tressoldi PE, Vio C. BVN 12-18: Batteria di valutazione neuropsicologica per l'adolescenza. Trento: Erickson; 2009
40. Sparrow SS, Cicchetti DV. Diagnostic uses of the Vineland Adaptive Behavior Scales. J Pediatr Psychol. 1985;10(2):215-225
41. McKinlay Gardner RJ, Sutherland GR. Chromosome Abnormalities and Genetic Counseling, 3rd ed. Oxford, United Kingdom: Oxford University Press; 2004