Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome

Journal of Medical Genetics

Volumn 40, Issue 2, 2003, Pages 136-140

  Karmiloff Smith, A ^a   Grant, J ^a   Ewing, S ^a   Carette, M J ^b   Metcalfe, K ^b   Donnai, D ^b   Read, A P ^b   Tassabehji, M ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CASE REPORT; CASE STUDY; CHROMOSOME DELETION; CLINICAL FEATURE; COGNITION; COMPARATIVE STUDY; CONTROLLED STUDY; CORRELATION ANALYSIS; FEMALE; GENE MAPPING; GENOTYPE; HUMAN; LETTER; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; WILLIAMS BEUREN SYNDROME;

EID: 0037326613     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.2.136     Document Type: Letter

References (18)

1. Donnai D, Karmiloff-Smith A. Williams syndrome: from genotype through to the cognitive phenotype. Semin Med Genet 2000;97:164-71.
2. Morris CA. The natural history of Williams syndrome: physical characteristics. J Pediatr 1988; 113:318-26.
3. Osborne LR. Williams-Beuren syndrome: unravelling the mysteries of a microdeletion disorder. Mol Genet Metob 1999;67:1-10.
4. Botta A, Novelli G, Mari A, Novelli A, Sabani M, Korenberg J, Osborne LR, Digilio MC, Giannotti A, Dallapiccola B. Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. J Med Genet 1999;36:478-80.
5. Tassabehji M, Metcalfe K, Karmiloff-Smith A, Carette MJ, Grant J, Dennis N, Reardon W, Splitt M, Read AP, Donnai D. Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet 1999;64:118-25.
6. Tassabehji M, Metcalfe K, Fergusson WD, Carette MJA, Dore JK, Donnai D, Read AP, Proschel C, Gutowski NJ, Mao X, Sheer D. LIM-kinase deleted in Williams syndrome. Nat Genet 1996;13:272-3.
7. Yang N, Higuchi O, Ohashi K, Nagata K, Wada A, Kangawa K, Nishida E, Mizuno K. Cofilin phosphorylation by LIM-kinase 1 and is role in Rac-mediated actin reorganization. Nature 1998;393:809-12.
8. Frangiskakis JM, Ewart A, Morris CA, Mervis CB, Bertrand J, Robinson BF, Klein BP, Ensing G, Everett LA, Green ED, Proschel C, Gutowski NJ, Noble M, Atkinson DL, Odelberg SJ, Keating MT. LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell 1996;86:59-69.
9. Arber S, Barbayannis FA, Hanser H, Schneider C, Stanyon CA, Bernard O, Caroni P. Regulation of actin dynamics through phosphorylation of cofilin by LIM-kinase. Nature 1998;393:805-9.
10. Mari A, Amati F, Conti E, Bengala M, Novelli G, Dallapiccola B. A highly polymorphic CA/GT repeat (LIMK1GT) within the Williams syndrome critical region. Clin Genet 1998;53:226-7.
11. Elliot CD Smith P, McCulloch K. British Ability Scoles II. Windsor: NFER-Nelson, 1996.
12. Dunn LM, Dunn LM. Peobody Picture Vocabulary Test - Revised. Nashville, TN: American Guidance, 1982.
13. Benton AL, Hamsher KdS, Varney NR, Spreen O. Contributions to neuropsychological assessment. New York: Oxford University Press, 1983.
14. Karmiloff-Smith A. Development itself is the key to understanding developmental disorders. Trends Cogn Sci 1998;2:389-98.
15. Paterson SJ, Brown JH, Gsödl MK, Johnson MH, Karmiloff-Smith A. Cognitive modularity and genetic disorders. Science 1999;286:2355-8.
16. Karmiloff-Smith A, Brown JH, Grice S, Paterson S. Dethroning the myth: cognitive dissociations and innate modularity in Williams syndrome. Dev Neuropsychol (in press).
17. Grice S, Spratling MW, Karmiloff-Smith A, Halit H, Csibra G, de Haan M, Johnson MH. Disordered visual processing and oscillatory brain activity in autism and Williams syndrome. NeuroReport 2001;12:2697-700.
18. Francke U. Williams-Beuren syndrome: genes and mechanisms. Hum Mol Genet 1999;8:1947-54.