Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria

American Journal of Medical Genetics, Part A

Volumn 161, Issue 9, 2013, Pages 2321-2326

  Turner, Samantha J ^a   Hildebrand, Michael S ^a   Block, Susan ^b   Damiano, John ^a   Fahey, Michael ^c   Reilly, Sheena ^a,d   Bahlo, Melanie ^a,e   Scheffer, Ingrid E ^a,f   Morgan, Angela T ^a,d  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b LA TROBE UNIVERSITY   (Australia)

^c MONASH UNIVERSITY   (Australia)

^d MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^e WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^f FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

Author keywords

Childhood apraxia of speech; Forkhead box P2 gene; Genotype phenotype correlations; Intragenic deletion; Speech and language disorders

Indexed keywords

TRANSCRIPTION FACTOR FOXP2;

APRAXIA OF SPEECH; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DYSARTHRIA; FEMALE; FOXP2 GENE; GENE DELETION; GENE SEGREGATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IDEOMOTOR APRAXIA; MALE; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SPEECH ANALYSIS; SPEECH AND LANGUAGE ASSESSMENT; STUTTERING; TREMOR;

CHILDHOOD APRAXIA OF SPEECH; FORKHEAD BOX P2 GENE; GENOTYPE-PHENOTYPE CORRELATIONS; INTRAGENIC DELETION; SPEECH AND LANGUAGE DISORDERS;

ADOLESCENT; ADULT; APRAXIAS; BASE SEQUENCE; CHILD; DYSARTHRIA; FORKHEAD TRANSCRIPTION FACTORS; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOTOR SKILLS; PEDIGREE; SEQUENCE DELETION; SPEECH; YOUNG ADULT;

EID: 84881666129     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36055     Document Type: Article

References (37)

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. 2010. A method and server for predicting damaging missense mutations. Nat Methods 7:248-249.
2. Alcock KJ, Passingham RE, Watkins KE, Vargha-Khadem F. 2000. Oral dyspraxia in inherited speech and language impairment and acquired dysphasia. Brain Lang 75:17-33.
3. American Speech-Language-Hearing Association (ASHA). 2007. Childhood apraxia of speech [technical report]. Available from. http://www.asha.org/policy.
4. Bishop DJ. 2003. Test for Reception of Grammar. 2nd edition. London: Pearson Assessment.
5. Dodd B, Hua Z, Crosbie S, Holm A, Ozanne A. 2002. Diagnostic evaluation of articulation and phonology. London: Pearson Assessment.
6. Dunn LM, Dunn DM. 2007. The Peabody Picture Vocabulary Test. 4th edition. Minneapolis: NCS Pearson Inc.
7. Enderby P. 2003. Frenchay Dysarthria Assessment. San Diego: College-Hill Press.
8. Feuk L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Finucane B, Hartung D, Innes M, Kerem B, Nowaczyk MJ, Rivlin J, Roberts W, Senman L, Summers A, Szatmari P, Wong V, Vincent JB, Zeesman S, Osborne LR, Cardy JO, Kere J, Scherer SW, Hannula-Jouppi K. 2006. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet 79:965-972.
9. Gathercole SE, Baddeley AD. 1996. Nonword Memory Test. University of Bristol.
10. Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C. 2011. Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet 12:106.
11. Hayden D, Square P. 1999. The Verbal Motor Production Assessment for Children. Texas: The Psychological Corporation.
12. Hurst JA, Baraitser M, Auger E, Graham F, Norell S. 1990. An extended family with a dominantly inherited speech disorder. Dev Med Child Neurol 32:352-355.
13. Kumar P, Henikoff S, Ng PC. 2009. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073-1081.
14. Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP. 2001. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413:519-523.
15. Lennon PA, Cooper ML, Peiffer DA, Gunderson KL, Patel A, Peters S, Cheung SW, Bacino CA. 2007. Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: Clinical report and review. Am J Med Genet Part A 143A:791-798.
16. MacDermot KD, Bonora E, Sykes N, Coupe AM, Lai CS, Vernes SC, Vargha-Khadem F, McKenzie F, Smith RL, Monaco AP, Fisher SE. 2005. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am J Hum Genet 76:1074-1080.
17. Morgan AT, Liegeois F, Vargha-Khadem F. 2010. Motor speech outcome as a function of the site of brain pathology: A developmental perspective. In: Maassen B, van Lieshout P, editors. Speech motor control: New developments in basic and applied research. Oxford: Oxford University Press. pp 95-115.
18. Palka C, Alfonsi M, Mohn A, Cerbo R, Guanciali Franchi P, Fantasia D, Morizio E, Stuppia L, Calabrese G, Zori R, Chiarelli F, Palka G. 2012. Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment. Pediatrics 129:e183-e188.
19. Rice GM, Raca G, Jakielski KJ, Laffin JJ, Iyama-Kurtycz CM, Hartley SL, Sprague RE, Heintzelman AT, Shriberg LD. 2012. Phenotype of FOXP2 haploinsufficiency in a mother and son. Am J Med Genet Part A 158A:174-181.
20. Roll P, Vernes SC, Bruneau N, Cillario J, Ponsole-Lenfant M, Massacrier A, Rudolf G, Khalife M, Hirsch E, Fisher SE, Szepetowski P. 2010. Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex. Hum Mol Genet 19:4848-4860.
21. Semel E, Wiig E, Secord W. 2006. Clinical evaluation of language fundamentals, Australian standardised edition. 4th edition. Marrickville: Harcourt Assessment.
22. Shriberg L, Kwiatkowski J, Rasmussen C. 1990. The prosody-voice screening profile. Tuscson, AZ: Communication Skill Builders.
23. Shriberg LD, Ballard KJ, Tomblin JB, Duffy JR, Odell KH, Williams CA. 2006. Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. J Speech Lang Hear Res 49:500-525.
24. Shriberg LD, Lohmeier HL, Campbell TF, Dollaghan CA, Green JR, Moore CA. 2009. A nonword repetition task for speakers with misarticulations: The Syllable Repetition Task (SRT). J Speech Lang Hear Res 52:1189-1212.
25. Spiteri E, Konopka G, Coppola G, Bomar J, Oldham M, Ou J, Vernes SC, Fisher SE, Ren B, Geschwind DH. 2007. Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain. Am J Hum Genet 81:1144-1157.
26. Tomblin JB, O'Brien M, Shriberg LD, Williams C, Murray J, Patil S, Bjork J, Anderson S, Ballard K. 2009. Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2. J Speech Lang Hear Res 52:1157-1174.
27. Vargha-Khadem F, Gadian DG, Copp A, Mishkin M. 2005. FOXP2 and the neuroanatomy of speech and language. Nat Rev Neurosci 6:131-138.
28. Vargha-Khadem F, Watkins K, Alcock K, Fletcher P, Passingham R. 1995. Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder. Proc Natl Acad Sci U S A 92:930-933.
29. Vargha-Khadem F, Watkins KE, Price CJ, Ashburner J, Alcock KJ, Connelly A, Frackowiak RS, Friston KJ, Pembrey ME, Mishkin M, Gadian DG, Passingham RE. 1998. Neural basis of an inherited speech and language disorder. Proc Natl Acad Sci U S A 95:12695-12700.
30. Vernes SC, Spiteri E, Nicod J, Groszer M, Taylor JM, Davies KE, Geschwind DH, Fisher SE. 2007. High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders. Am J Hum Genet 81:1232-1250.
31. Wagner RK, Torgesen JK, Rashotte CA. 1999. Comprehensive Test of Phonological Processing. Austin: PRO-ED.
32. Wechsler D. 1999. The Wechsler Abbreviated Scale of Intelligence. London: Pearson Assessment.
33. Wechsler D. 2004. The Wechsler Intelligence Scale for Children. 4th edition. London: Pearson Assessment.
34. Wilkinson GS, Robertson GJ. 2006. Wide Range Achievement Test. 4th edition. Lutz: Psychological Assessment Resources.
35. Williams KT. 2007. Expressive Vocabulary Test. 2nd edition. London: Pearson Assessment.
36. Zeesman S, Nowaczyk MJ, Teshima I, Roberts W, Cardy JO, Brian J, Senman L, Feuk L, Osborne LR, Scherer SW. 2006. Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. Am J Med Genet Part A 140A:509-514.
37. Zilina O, Reimand T, Zjablovskaja P, Mannik K, Mannamaa M, Traat A, Puusepp-Benazzouz H, Kurg A, Ounap K. 2012. Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families. Am J Med Genet Part A 158A:254-256.