Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients

European Journal of Medical Genetics

Volumn 50, Issue 5, 2007, Pages 327-337

  Ferrero, Giovanni Battista ^a   Biamino, Elisa ^a   Sorasio, Lorena ^a   Banaudi, Elena ^b   Peruzzi, Licia ^b   Forzano, Serena ^a   Verdun di Cantogno, Ludovica ^c   Silengo, Margherita Cirillo ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^c MOLINETTE HOSPITAL   (Italy)

Author keywords

Chiari malformation type 1; Clinical phenotype; Congenital heart defects; Mental retardation; Total anomalous venous pulmonary return (TAVPR); Williams Beuren syndrome

Indexed keywords

ADOLESCENT; ADULT; AORTA VALVE STENOSIS; ARTICLE; CHIARI FROMMEL SYNDROME; CHILD; CHROMOSOME 7Q; CLINICAL ARTICLE; CLINICAL EXAMINATION; COHORT ANALYSIS; CONGENITAL HEART MALFORMATION; DELAYED DIAGNOSIS; FACE DYSMORPHIA; FEMALE; HUMAN; LUNG VEIN DRAINAGE ANOMALY; MALE; MENTAL DEFICIENCY; NEWBORN; PHENOTYPE; SYNDROME DELINEATION; WILLIAMS BEUREN SYNDROME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; COHORT STUDIES; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MENTAL RETARDATION; PHENOTYPE; WILLIAMS SYNDROME;

EID: 34548756087     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.05.005     Document Type: Article

References (50)

1. Bayes M., Magano L.F., Rivera N., Flores R., and Perez Jurado L.A. Mutational mechanisms of Williams-Beuren syndrome deletions. Am. J. Hum. Genet. 73 (2003) 131-151
2. Beuren A.J. Supravalvular aortic stenosis: a complex syndrome with and without mental retardation. Birth Defects Orig. Art. Ser. VIII (1972) 45-56
3. Broder K., Reinhardt E., Ahern J., Lifton R., Tamborlane W., and Pober B. Elevated ambulatory blood pressure in 20 subjects with Williams syndrome. Am. J. Med. Genet. 83 (1999) 356-360
4. Botta A., Novelli G., Mari A., Novelli A., Sabani M., Korenberg J., Osborne L.R., Digilio M.C., Giannotti A., and 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. 36 (1999) 478-480
5. Cambiaso P., Orazi C., Digilio M.C., Loche S., Capolino R., Tozzi A., Faedda A., and Cappa M. Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome. J. Pediatr. 150 (2007) 62-65
6. Cherniske E.M., Sadler L.S., Schwartz D., Carpenter T.O., and Pober B.R. Early puberty in Williams syndrome. Clin. Dysmorphol. 8 (1999) 117-121
7. Committee on Genetics of American Academy of Pediatrics. Health care supervision for children with Williams Syndrome. Pediatrics 107 (2001) 1192-1204
8. Curran M.E., Atkinson D.L., Ewart A.K., Morris C.A., Leppert M.F., and Keating M.T. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 73 (1993) 159-168
9. Dallapiccola B., Mingarelli R., Giannotti A., Digilio M.C., Volterra V., and Vicari S. Linee guida per la sindrome di Williams. Riv. Ital. Pediatr. 26 (2000) 244-253
10. Del Campo M., Antonell A., Magano L.F., Munoz F.J., Flores R., Bayes M., and Perez Jurado L.A. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Am. J. Hum. Genet. 78 (2006) 533-542
11. Dietz H.C., and Mecham R.P. Mouse models of genetic diseases resulting from mutations in elastic fiber proteins. Matrix Biol. 19 (2002) 481-488
12. Donnai D., and Karmiloff-Smith A. Williams syndrome: from genotype through to the cognitive phenotype. Am. J. Med. Genet. 97 (2000) 164-171
13. Edelmann L., Prosnitz A., Pardo S., Bhatt J., Cohen N., Lauriat T., Ouchanov L., Gonzalez P.J., Manghi E.R., Bondy P., Esquivel M., Monge S., Delgado M.F., Splendore A., Francke U., Burton B.K., and McInnes L.A. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. J. Med. Genet. 44 (2007) 136-143
14. Eronen M., Peippo M., Hiippala A., Raatikka M., Arvio M., Johansson R., and Kahkonen M. Cardiovascular manifestations in 75 patients with Williams Syndrome. J. Med. Genet. 39 (2002) 554-558
15. Ewart A.K., Morris C.A., Atkinson D., Jin W., Sternes K., Spallone P., Stock A.D., Leppert M., and Keating M.T. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat. Genet. 5 (1993) 11-16
16. Frangiskakis J.M., Ewart A.K., Morris C.A., Mervis C.B., Bertrand J., Robinson B.F., Klein B.P., Ensing G.J., Everett L.A., Green E.D., Proschel C., Gutowski N.J., Noble M., Atkinson D.L., Odelberg S.J., and Keating M.T. LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell 86 (1996) 59-69
17. Gagliardi C., Bonaglia M.C., Selicorni A., Borgatti R., and Giorda R. Unusual cognitive and behavioural profile in Williams syndrome with atypical 7q11.23 deletion. J. Med. Genet. 40 (2003) 526-530
18. Greer K., Brown F.R., Pai G.S., Choudry S.H., and Klein A.J. Cognitive, adaptive, and behavioral characteristics of Williams sindrome. Am. J. Med. Genet. 74 (1997) 521-525
19. Heller R., Rauch A., Luttgen S., Schroeder B., and Winterpacht A. Partial deletion of the critical 1.5Mb interval in Williams-Beuren syndrome. J. Med. Genet. 40 (2003) e99
20. Hirota H., Matsuoka R., Chen X.N., Salandanan L.S., Lincoln A., Rose F.E., Sunahara M., Osawa M., Bellugi U., and Korenberg J.R. Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. Genet. Med. 5 (2003) 311-321
21. Hoogenraad C.C., Koekkoek B., Akhmanova A., Krugers H., Dortland B., Miedema M., van Alphen A., Kistler W.M., Jaegle M., Koutsourakis M., Van Camp N., Verhoye M., van der Linden A., Kaverina I., Grosveld F., De Zeeuw C.I., and Galjart N. Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice. Nat. Genet. 32 (2002) 116-127
22. Inoue K., and Lupski J.R. Molecular mechanism for genomic disorders. Annu. Rev. Genomics Hum. Genet. 3 (2002) 199-242
23. Karmiloff-Smith A., Grant J., Ewing S., Carette M.J., Metcalfe K., Donnai D., Read A.P., and Tassabehji M. Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome. J. Med. Genet. 40 (2003) 136-140
24. Kim Y.M., Yoo S.J., Choi J.Y., Kim S.H., Bae E.J., and Lee Y.T. Natural course of supravalvar aortic stenosis and peripheral pulmonary arterial stenosis in Williams' syndrome. Cardiol. Young 9 (1999) 37-41
25. Li D.Y., Faury G., Taylor D.G., Davis E.C., Boyle W.A., Mecham R.P., Stenzel P., Boak B., and Keating M.T. Novel arterial pathology in mouse and humans hemizygous for elastin. J. Clin. Invest. 102 (1998) 1783-1787
26. Mercuri E., Atkinson J., Braddick O., Rutherford M.A., Cowan F.M., Counsell S.J., Dubowitz L.M., and Bydder G. Chiari I malformation in asymptomatic young children with Williams syndrome: clinical and MRI study. Eur. J. Paediatr. Neurol. 1 (1997) 177-181
27. Merla G., Howald C., Henrichsen C.N., Lyle R., Wyss C., Zabot M.T., Antonarakis S.E., and Reymond A. Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am. J. Hum. Genet. 79 (2006) 332-341
28. Mervis C.B., and Klein-Tasman B.P. Williams syndrome: cognition, personality, and adaptive behaviour. Ment. Retard. Dev. Disabil. Res. Rev. 6 (2000) 148-158
29. Mervis C.B., and Becerra A.M. Language and communicative development in Williams syndrome. Ment. Retard. Dev. Disabil. Res. Rev. 13 (2007) 3-15
30. Meyer-Lindemberg A., Mervis C., and Berman K.F. Neural mechanism in Williams syndrome: a unique window to genetic influences on cognition and behaviour. Nat. Neurosci. 7 (2006) 380-393
31. Metcalfe K., Simeonov E., Beckett W., Donnai D., and Tassabehji M. Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6. Clin. Dysmorphol. 14 (2005) 61-65
32. Morris C.A., Thomas I.T., and Greenberg F. Williams syndrome: autosomal dominant inheritance. Am. J. Med. Genet. 47 (1993) 478-481
33. Morris C.A., Mervis C.B., Hobart H.H., Gregg R.G., Bertrand J., Ensing G.J., Sommer A., Moore C.A., Hopkin R.J., Spallone P.A., Keating M.T., Osborne L., Kimberley K.W., and Stock A.D. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region. Am. J. Med. Genet. 123A (2003) 45-59
34. Pankau R., Siebert R., Kautza M., Schneppenheim R., Gosch A., Wessel A., and Partsch C.J. Familial Williams-Beuren syndrome showing varying clinical expression. Am. J. Med. Genet. 98 (2001) 324-329
35. Partsch C.J., Dreyer G., Gosch A., Winter M., Schneppenheim R., Wessel A., and Pankau R. Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome. J. Pediatr. 134 (1999) 82-89
36. Partsch C.J., Japing I., Siebert R., Gosch A., Wessel A., Sippell W.G., and Pankau R. Central precocious puberty in girls with Williams syndrome. J. Pediatr. 141 (2002) 441-444
37. Pober B.R., and Filiano J.J. Association of Chiari I malformation and Williams syndrome. Pediatr. Neurol. 12 (1995) 84-88
38. Sadler L.S., Pober B.R., Grandinetti A., Scheiber D., Fekete G., Sharma A.N., and Urban Z. Differences by sex in cardiovascular disease in Williams syndrome. J. Pediatr. 139 (2001) 849-853
39. Selicorni A., Fratoni A., Pavesi M.A., Bottigelli M., Arnaboldi E., and Milani D. Thyroid anomalies in Williams syndrome: investigation of 95 patients. Am. J. Med. Genet. 140 (2006) 1098-1101
40. Shimamoto T., Ikeda T., Koshiji T., Nishimura K., Nomoto S., Matsuda K., and Ban T. A successful surgical repair of total anomalous pulmonary venous connection associated with Williams syndrome. Kyobu Geka 50 (1997) 405-408
41. Stamm C., Friehs I., Ho S.Y., Moran A.M., Jonas R.A., and del Nido P.J. Congenital supravalvar aortic stenosis: a simple lesion? Eur. J. Cardiothorac. Surg. 19 (2001) 195-202
42. Stromme P., Bjornstrad P.G., and Ramstad K. Prevalence estimation of Williams syndrome. J. Child Neurol. 17 (2002) 269-271
43. Tassabehji M., Metcalfe K., Karmiloff-Smith A., Carette M.J., Grant J., Dennis N., Reardon W., Splitt M., Read A.P., and Donnai D. Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am. J. Hum. Genet. 64 (1999) 118-125
44. Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum. Mol. Genet. 12 (2003) 229-237
45. Tassabehji M., Hammond P., Karmiloff-Smith A., Thompson P., Thorgeirsson S.S., Durkin M.E., Popescu N.C., Hutton T., Metcalfe K., Rucka A., Stewart H., Read A.P., Maconochie M., and Donnai D. GTF2IRD1 in craniofacial development of humans and mice. Science 310 (2005) 1184-1187
46. van Hagen J.M., van der Geest J.N., van der Giessen R.S., Lagers-van Haselen G.C., Eussen H.J., Gille J.J., Govaerts L.C., Wouters C.H., de Coo I.F., Hoogenraad C.C., Koekkoek S.K., Frens M.A., van Camp N., van der Linden A., Jansweijer M.C., Thorgeirsson S.S., and De Zeeuw C.I. Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome. Neurobiol. Dis. 26 (2007) 112-124
47. Wessel A., Pankau R., Kececioglu D., Ruschewski W., and Bursch J.H. Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. Am. J. Med. Genet. 52 (1994) 297-301
48. Wessel A., Motz R., Pankau R., and Bursch J.H. Arterial hypertension and blood pressure profile in patients with Williams-Beuren syndrome. Z. Kardiol. 86 (1997) 251-257
49. Winter M., Pankau R., Amm M., Gosch A., and Wessel A. The spectrum of ocular features in the Williams-Beuren syndrome. Clin. Genet. 49 (1996) 28-31
50. Yau E.K., Lo I.F., and Lam S.T. Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study. J. Hong Kong Med. 10 (2004) 22-27