Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation

Indian Journal of Pediatrics

Volumn 83, Issue 5, 2016, Pages 473-474

  Tamhankar, Parag M ^a   Merchant, Rashid ^b   Shah, Ami ^b  

^a Genetic Research Centre India   (India)

^b Department of Pediatrics   (India)

Author keywords

[No Author keywords available]

Indexed keywords

E1A ASSOCIATED P300 PROTEIN; EP300 PROTEIN, HUMAN;

CASE REPORT; CHILD; EXON; FACIES; FEMALE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; LETTER; PALPEBRAL FISSURE; RUBINSTEIN SYNDROME; SCHOOL CHILD; SHORT STATURE; GENETICS; HETEROZYGOTE DETECTION; INDIA; MUTATION; PATHOPHYSIOLOGY; PENETRANCE; RUBINSTEIN-TAYBI SYNDROME;

CHILD; E1A-ASSOCIATED P300 PROTEIN; FEMALE; HETEROZYGOTE DETECTION; HUMANS; INDIA; MUTATION; PENETRANCE; RUBINSTEIN-TAYBI SYNDROME;

EID: 84941670525     PISSN: 00195456     EISSN: 09737693     Source Type: Journal    
DOI: 10.1007/s12098-015-1891-3     Document Type: Letter

References (5)

1. Bentivegna A, Milani D, Gervasini C, et al. Rubinstein-Taybi syndrome: spectrum of CREBBP mutations in Italian patients. BMC Med Genet. 2006;7:77.
2. Negri G, Milani D, Colapietro P, et al. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. Clin Genet. 2015;87:148–54.
3. Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014;11:361–2.
4. Bartsch O, Labonte J, Albrecht B, et al. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. Am J Med Genet. 2010;152A:181–4.
5. Piwkham D, Gelfond JA, Rerkamnuaychoke B, et al. Multilocus association of genetic variants in MLL, CREBBP, EP300, and TOP2A with childhood acute lymphoblastic leukemia in Hispanics from Texas. Cancer Epidemiol Biomark Prev. 2011;20:1204–12.