Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 3, 2013, Pages 527-533

  Delio, Maria ^a   Pope, Kathleen ^b   Wang, Tao ^a   Samanich, Joy ^b   Haldeman Englert, Chad R ^c   Kaplan, Paige ^d   Shaikh, Tamim H ^e   Cai, Jinlu ^a   Marion, Robert W ^b   Morrow, Bernice E ^a   Babcock, Melanie ^a,f  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b MONTEFIORE MEDICAL CENTER   (United States)

^c WAKE FOREST SCHOOL OF MEDICINE   (United States)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^e Children's Hospital Colorado   (United States)

^f MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Bicuspid valve aorta; DNA polymorphisms; Elastin; Supravalvular aortic stenosis; Williams Beuren syndrome

Indexed keywords

ELASTIN; GENOMIC DNA;

ADOLESCENT; ADULT; ARTICLE; CARDIOVASCULAR DISEASE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA FLANKING REGION; ELASTIN GENE; EXON; FEMALE; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; INTRON; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; PATIENT ASSESSMENT; PHENOTYPE; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY SUBVALVULAR STENOSIS; PULMONARY VALVE INSUFFICIENCY; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPECTROSCOPY; WILLIAMS BEUREN SYNDROME;

ADOLESCENT; AORTIC STENOSIS, SUPRAVALVULAR; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELASTIN; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; HAPLOINSUFFICIENCY; HUMANS; INFANT; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; WILLIAMS SYNDROME;

EID: 84874196863     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35784     Document Type: Article

References (31)

1. Arrington CB, Nightengale D, Lowichik A, Rosenthal ET, Christian-Ritter K, Viskochil DH. 2006. Pathologic and molecular analysis in a family with rare mixed supravalvar aortic and pulmonic stenosis. Pediatr Dev Pathol 9: 297-306.
2. Chowdhury T, Reardon W. 1999. Elastin mutation and cardiac disease. Pediatr Cardiol 20: 103-107.
3. Cincinnati P, Genuardi M, Rutiloni C. 1998. Williams syndrome without cardiovascular abnormalities. Minerva Pediatr 50: 467-471.
4. Cirulli ET, Goldstein DB. 2010. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 11: 415-425.
5. Collins RT II, Kaplan P, Somes GW, Rome JJ. 2010. Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndrome. J Pediatr 156: 253-258, e251.
6. Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT. 1993. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 73: 159-168.
7. Del Campo M, Antonell A, Magano LF, Muñoz FJ, Flores R, Bayés M, Pérez Jurado LA. 2006. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Am J Hum Genet 78: 533-542.
8. Donnai D, Karmiloff-Smith A. 2000. Williams syndrome: From genotype through to the cognitive phenotype. Am J Med Genet 97: 164-171.
9. Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT. 1993. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 5: 11-16.
10. Fazio MJ, Olsen DR, Kauh EA, Baldwin CT, Indik Z, Ornstein-Goldstein N, Yeh H, Rosenbloom J, Uitto J. 1988. Cloning of full-length elastin cDNAs from a human skin fibroblast recombinant cDNA library: Further elucidation of alternative splicing utilizing exon-specific oligonucleotides. J Invest Dermatol 91: 458-464.
11. Ferrero GB, Howald C, Micale L, Biamino E, Augello B, Fusco C, Turturo MG, Forzano S, Reymond A, Merla G. 2010. An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. Eur J Hum Genet 18: 33-38.
12. Fryssira H, Palmer R, Hallidie-Smith KA, Taylor J, Donnai D, Reardon W. 1997. Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis. J Med Genet 34: 306-308.
13. Indik Z, Yeh H, Ornstein-Goldstein N, Sheppard P, Anderson N, Rosenbloom JC, Peltonen L, Rosenbloom J. 1987. Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA. Proc Natl Acad Sci U S A 84: 5680-5684.
14. Li DY, Toland AE, Boak BB, Atkinson DL, Ensing GJ, Morris CA, Keating MT. 1997. Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. Hum Mol Genet 6: 1021-1028.
15. McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, Hirschhorn JN. 2008. Genome-wide association studies for complex traits: Consensus, uncertainty and challenges. Nat Rev Genet 9: 356-369.
16. Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M. 2000. Elastin: Mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet 8: 955-963.
17. Micale L, Turturo MG, Fusco C, Augello B, Jurado LA, Izzi C, Digilio MC, Milani D, Lapi E, Zelante L, Merla G. 2010. Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. Eur J Hum Genet 18: 317-323.
18. Morris CA, Loker J, Ensing G, Stock AD. 1993. Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene. Am J Med Genet 46: 737-744.
19. Ng PC, Henikoff S. 2003. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31: 3812-3814.
20. Olson TM, Michels VV, Urban Z, Csiszar K, Christiano AM, Driscoll DJ, Feldt RH, Boyd CD, Thibodeau SN. 1995. A 30kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Hum Mol Genet 4: 1677-1679.
21. Perez Jurado LA, Wang YK, Francke U, Cruces J. 1999. TBL2, a novel transducin family member in the WBS deletion: Characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog. Cytogenet Cell Genet 86: 277-284.
22. Pober BR, Johnson M, Urban Z. 2008. Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome. J Clin Invest 118: 1606-1615.
23. Rodriguez-Revenga L, Badenas C, Carrio A, Mila M. 2005. Elastin mutation screening in a group of patients affected by vascular abnormalities. Pediatr Cardiol 26: 827-831.
24. Tamburro AM, Bochucchio B, Pepe A. 2003. Dissection of human tropoelastin: Exon-by-exob chemical synthesis and related conformational studies. Biochemistry 42: 13347-13362.
25. Tassabehji M, Donnai D. 2006. Williams-Beuren Syndrome: More or less? Segmental duplications and deletions in the Williams-Beuren syndrome region provide new insights into language development. Eur J Hum Genet 14: 507-508.
26. Tassabehji M, Metcalfe K, Donnai D, Hurst J, Reardon W, Burch M, Read AP. 1997. Elastin: Genomic structure and point mutations in patients with supravalvular aortic stenosis. Hum Mol Genet 6: 1029-1036.
27. Urban Z, Michels VV, Thibodeau SN, Donis-Keller H, Csiszar K, Boyd CD. 1999. Supravalvular aortic stenosis: A splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. Hum Genet 104: 135-142.
28. Urban Z, Zhang J, Davis EC, Maeda GK, Kumar A, Stalker H, Belmont JW, Boyd CD, Wallace MR. 2001. Supravalvular aortic stenosis: Genetic and molecular dissection of a complex mutation in the elastin gene. Hum Genet 109: 512-520.
29. von Dadelszen P, Chitayat D, Winsor EJ, Cohen H, MacDonald C, Taylor G, Rose T, Hornberger LK. 2000. De novo 46, XX, t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome. Am J Med Genet 90: 270-275.
30. Wan ES, Pober BR, Washko GR, Raby BA, Silverman EK. 2010. Pulmonary function and emphysema in Williams-Beuren syndrome. Am J Med Genet Part A 152A: 653-656.
31. Watts CR, Awan SN, Marler JA. 2008. An investigation of voice quality in individuals with inherited elastin gene abnormalities. Clin Linguist Phon 22: 199-213.