Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2

American Journal of Medical Genetics

Volumn 140 A, Issue 5, 2006, Pages 509-514

  Zeesman, Susan ^a,b   Nowaczyk, Małgorzata J M ^a,b   Teshima, Ikuko ^c   Roberts, Wendy ^c   Cardy, Janis Oram ^c   Brian, Jessica ^c   Senman, Lili ^c   Feuk, Lars ^c   Osborne, Lucy R ^d   Scherer, Stephen W ^c,d  

^a MCMASTER UNIVERSITY   (Canada)

^b HAMILTON REGIONAL LABORATORY MEDICINE PROGRAM   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

7q31 deletion; FOXP2; Oromotor dyspraxia; Speech and language impairment

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 7Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COUGHING; DYSPRAXIA; FEMALE; FOXP2 GENE; GENE; HUMAN; LANGUAGE DISABILITY; NONVERBAL COMMUNICATION; PRIORITY JOURNAL; SNEEZING; SPEECH DISORDER;

ABNORMALITIES, MULTIPLE; APRAXIAS; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; LANGUAGE DISORDERS; MICROSATELLITE REPEATS; SPEECH DISORDERS;

EID: 33644860165     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31110     Document Type: Article

References (30)

1. Abuelo DN, Padre-Mendoza T. 1982. Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32). J Med Genet 19:473-476.
2. Ayraud N, Rovinski J, Lambert JC, Galiana A. 1976. Délétion interstitielle du bras long d'un chromosome 7 chez une enfant lepréchaune. Ann Genet 19:265-268.
3. Pagan K, Gill A, Hemy R. Wilkinson I, Carey B. 1989. A summary of 7q interstitial deletions and exclusion mapping of the gene for β-glucuronidase. J Med Genet 26:619-625.
4. Franceschini P, Silengo MC, Davi GF, Santoro MA, Prandi G, Fabris C. 1978. Interstitial deletion of the long arm of chromosome 7 46,XXdel(7) (pter→q2200::q3200→qter). Hum Genet 44:345-348.
5. Higginson G, Weaver DD, Magenis RE, Prescott GH, Haag C, Hepburn DJ. 1976. Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies. Clin Genet 10:307-312.
6. 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.
7. ISCN. 1995. An international system for human cytogenetic nomenclature. Basel: S. Karger.
8. Josikek K, Haessig C, Pantzer T. 1991. Evaluation of chromosome banding resolution: A simple guide for laboratory quality assurance. Appl Cytogenet 17:101-105.
9. Klep-de-Pater JM, Bijlsma JB, Bleeker-Wagemakers EM, de France HF, de Vries-Ekkers CMAM. 1979. Two cases with different deletions of the long arm of chromosome 7. J Med Genet 16:151-154.
10. Lai CSL, Fisher SE, Hurst JA, Levy ER, Hodgson S, Fox M, Jeremiah S, Povey S, Jamison DC, Green ED, Vargha-Khadem F, Monaco AP. 2000. 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 67:357-368.
11. Lai CSL, 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.
12. Lai CSL, Gerrelli D, Monaco AP, Fisher SE, Copp AJ. 2003. FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder. Brain 126:2455-2462.
13. Lord C, Rutter M, Le Couteur A. 1994. Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24:659-685.
14. Lord C, Risi S, Lambrecht L, Cook EH, Leventhal BL, DiLavore PC, Pickles A, Rutter M. 2000. The Autism Diagnostic Observation Schedule-Generic: A standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 30:205-223.
15. MacDermot KD, Bonora E, Sykes N, Coupe A.-M, Lai CSL, Vernes SC, Vargha-Khadem F, McKenzie F, Smith RL, Monaco AP, Fisher SE. 2005. Identification of FOX2 truncation as a novel cause of developmental speech and language deficits. Am J Hum Genet 76:1070-1080.
16. Martin-Pont B, Pilczer C, Dandine M, Tamboise A. 1985. De novo deletion of the long arm of chromosome 7: 46,XY,del(7)(q23;q32). Ann Genet 28:251-253.
17. Montgomery TL, Wyllie J, Oley C. 2000. Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion. Clin Dysmorphol 9:235-239.
18. Morey MA, Higgins RR. 1990. Ectro-amelia syndrome associated with an interstitial deletion of 7q. Am J Med Genet 35:95-99.
19. Osborne LR. 1999. Williams-Beuren syndrome: Unravelling the mysteries of a microdeletion disorder. Mol Genet Metab 67: 1-10.
20. Osborne LR, Li M, Pober B. Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW. 2001. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 29:321-325.
21. Roid GH, Miller LJ. 1997. Leiter International Performance Scale-Revised. Wood Dale, IL: Stoelting Co.
22. Sarda P, Turleau C, Cabanis MO, Jalaguier J, de Grouchy J, Bonnet H. 1988. Deletion interstitielle du bras long du chromosome 7. Ann Genet 31:258-261.
23. Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon/SNM> AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AJM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, TsuiLC. 2003. Human chromosome 7: DNA sequence and biology. Science 300: 767-772.
24. Serup L. 1980. Interstitial deletion of the long arm of chromosome 7. Hum Genet 54:19-23.
25. Stallard R, Juberg RC. 1981. Partial monosomy 7q syndrome due to distal interstitial deletion. Hum Genet 57:210-213.
26. Thorndike RL, Hagen EP, Sattler JM. 1986. Technical manual, Stanford-Binet Intelligence Scale. 4th edition. Chicago: Riverside.
27. 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 92:930-933.
28. Watkins KE, Dronkers NF, Vargha-Khadem F. 2002. Behavioural analysis of an inherited speech and language disorder: Comparison with acquired aphasia. Brain 125:452-464.
29. Young RS, Weaver DD, Kukolich MK, Heerema NA, Palmer CG, Kawira EL, Bender HA. 1984. Terminal and interstitial deletions of the long arm of chromosome 7: A review with five new cases. Am J Med Genet 17:437-450.
30. Zimmerman IL, Steiner VG, Pond RE. 1992. Preschool Language Scale-3. San Antonio: Psychological Corporation.