Expanding the phenotypic spectrum in EP300-Related Rubinstein-Taybi syndrome

American Journal of Medical Genetics, Part A

Volumn 167, Issue 5, 2015, Pages 1111-1116

  Solomon, Benjamin D ^a,b   Bodian, Dale L ^a   Khromykh, Alina ^a   Mora, Gabriela Gomez ^a   Lanpher, Brendan C ^c   Iyer, Ramaswamy K ^a,b   Baveja, Rajiv ^a   Vockley, Joseph G ^a,b   Niederhuber, John E ^a  

^a BETTY AND GUY BEATTY CENTER FOR INTEGRATED RESEARCH   (United States)

^b VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

Congenital anomalies; EP300; Rubinstein Taybi syndrome; Whole genome sequencing

Indexed keywords

ALPHA FETOPROTEIN; CHORIONIC GONADOTROPIN; E1A ASSOCIATED P300 PROTEIN; ESTRIOL; EP300 PROTEIN, HUMAN;

AMNIOCENTESIS; ARTICLE; BODY DYSMORPHIC DISORDER; CASE REPORT; CHROMOSOME ANALYSIS; CONSTIPATION; DIET THERAPY; DISEASE ASSOCIATION; EAR DYSPLASIA; EP300 GENE; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; HIRSUTISM; HUMAN; INFANT; KARYOTYPE 46,XX; LAMINECTOMY; MICROCEPHALY; NOSE MALFORMATION; PATENT DUCTUS ARTERIOSUS; PATENT FORAMEN OVALE; PHENOTYPE; PRIORITY JOURNAL; RETROGNATHIA; RUBINSTEIN SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; SPINE MALFORMATION; TOE MALFORMATION; CHROMOSOME MAP; GENE DELETION; GENETICS; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PREGNANCY; RADIOGRAPHY; RUBINSTEIN-TAYBI SYNDROME; SPINE; UROGENITAL TRACT MALFORMATION;

BASE SEQUENCE; CHROMOSOME MAPPING; E1A-ASSOCIATED P300 PROTEIN; EXOME; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MUTATION; PREGNANCY; RUBINSTEIN-TAYBI SYNDROME; SEQUENCE DELETION; SPINE; UROGENITAL ABNORMALITIES;

EID: 84927913664     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36883     Document Type: Article

References (23)

1. Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, Schinzel A, Peters DJ. 2007. Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet 44:327-333.
2. Bartsch O, Labonte J, Albrecht B, Wieczorek D, Lechno S, Zechner U, Haaf T. 2010. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. Am J Med Genet A 152A:181-184.
3. Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano L, Atzeri F, Divizia MT, Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L. 2006. Rubinstein-Taybi Syndrome: Spectrum of CREBBP mutations in Italian patients. BMC Med Genet 7:77.
4. Bodian DL, Solomon BD, Khromykh A, Thach DC, Iyer RK, Link K, Baker RL, Baveja R, Vockley JG, Niederhuber JE. 2014. Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio. Molec Genet Genomic Med [Epub ahead of print].
5. Cassidy SB, Allanson JE. 2010. Management of genetic syndromes. Hoboken NJ: Wiley-Blackwell xxii:p 962.
6. Foley P, Bunyan D, Stratton J, Dillon M, Lynch SA. 2009. Further case of Rubinstein-Taybi syndrome due to a deletion in EP300. Am J Med Genet A 149A:997-1000.
7. Hennekam RC. 2006. Rubinstein-Taybi syndrome. Eur J Hum Genet 14:981-985.
8. Hennekam RC, Biesecker LG. 2012. Next-generation sequencing demands next-generation phenotyping. Hum Mutat 33:884-886.
9. Hennekam RC, Van Den Boogaard MJ, Sibbles BJ, Van Spijker HG. 1990. Rubinstein-Taybi syndrome in The Netherlands. Am J Med Genet 6:17-29.
10. Lachmeijer AM, Arngrimsson R, Bastiaans EJ, Frigge ML, Pals G, Sigurdardottir S, Stefansson H, Palsson B, Nicolae D, Kong A, Aarnoudse JG, Gulcher JR, Dekker GA, ten Kate, Stefansson LP. 2001. A genome-wide scan for preeclampsia in the Netherlands. Eur J Hum Genet 9:758-764.
11. Marzuillo P, Grandone A, Coppola R, Cozzolino D, Festa A, Messa F, Luongo C, Del Giudice EM, Perrone L. 2013. Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. BMC Med Genet 14:28.
12. Negri G, Milani D, Colapietro P, Forzano F, Della Monica M, Rusconi D, Consonni L, Caffi LG, Finelli P, Scarano G, Magnani C, Selicorni A, Spena S, Larizza L, Gervasini C. 2014. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP 300 gene. Clin Genet [Epub ahead of print].
13. Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ, Breuning MH. 1995. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 376:348-351.
14. Roelfsema JH, White SJ, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ. 2005. Genetic heterogeneity in Rubinstein-Taybi syndrome: Mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet 76:572-580.
15. Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, Blough-Pfau RI, Grabowski GA. 2008. Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet A 146A:2512-2519.
16. Stef M, Simon D, Mardirossian B, Delrue MA, Burgelin I, Hubert C, Marche M, Bonnet F, Gorry P, Longy M, Lacombe D, Coupry I, Arveiler B. 2007. Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients. Eur J Hum Genet 15:843-847.
17. Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS. 2014. Mutations in NOTCH1 Cause Adams-Oliver Syndrome. Am J Hum Genet 95:275-284.
18. Tsai AC, Dossett CJ, Walton CS, Cramer AE, Eng PA, Nowakowska BA, Pursley AN, Stankiewicz P, Wiszniewska J, Cheung SW. 2011. Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. Eur J Hum Genet 19:43-49.
19. van de Kar AL, Houge G, Shaw AC, De Jong D, van Belzen MJ, Peters DJ, Hennekam RC. 2014. Keloids in Rubinstein-Taybi Syndrome: A Clinical Study. Br J Dermatol 171:615-621.
20. van Genderen MM, Kinds GF, Riemslag FC, Hennekam RC. 2000. Ocular features in Rubinstein-Taybi syndrome: Investigation of 24 patients and review of the literature. Br J Ophthalmol 84:1177-1184.
21. Woods SA, Robinson HB, Kohler LJ, Agamanolis D, Sterbenz G, Khalifa M. 2014. Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome. Am J Med Genet A 164A:251-258.
22. Yamamoto T, Kurosawa K, Masuno M, Okuzumi S, Kondo S, Miyama S, Okamoto N, Aida N, Nishimura G. 2005. Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome. Am J Med Genet A 135A:130-133.
23. Zimmermann N, Acosta AM, Kohlhase J, Bartsch O. 2007. Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome. Eur J Hum Genet 15:837-842.