Abstract：The patient was a girl aged 3 years and 8 months with normal body length and body weight at birth. The girl had feeding difficulty after birth. Her height, body weight, and head circumference were below the 3rd percentile. She had intellectual disability and an unusual facies manifesting as arched shaggy eyebrows, down-slanting palpebral fissures, and broad nasal bridge, but had no a beaked nose, broad thumbs, or big toes. These clinical manifestations were basically consistent with Rubinstein-Taybi syndrome (RSTS). Gene sequencing identified a heterozygous splice site mutation, c.3779T+1G > T, in the CREBBP gene, which did not exist in her parents. Therefore, a definite diagnosis of RSTS was made. The mutation c.3779T+1G > T had not been reported in the Human Gene Mutation Database and was identified as a novel pathogenic mutation. Then the girl was given rehabilitation training for delayed language and motor development. The girl has been followed up for 3 months in the outpatient department, but the effect of rehabilitation treatment has not been evaluated.
LI Yuan,HE Shan,ZHU Hong-Ling. Clinical features of Rubinstein-Taybi syndrome and novel mutation in the CREBBP gene:an analysis of one case[J]. CJCP, 2017, 19(11): 1155-1158.
Spena S, Milani D, Rusconi D, et al. Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients[J]. Clin Genet, 2015, 88(5):431-440.
[8]
Hutchinson DT, Sullivan R. Rubinstein-Taybi syndrome[J]. J Hand Surg Am, 2015, 40(8):1711-1712.
[9]
Hosek J, Borková A. The Rubinstein-Taybi syndrome or a broad thumb-hallux syndrome[J]. Cas Lek Cesk, 2008, 147(3):136-140.
[10]
Sharma N, Mali AM, Bapat SA. Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome[J]. J Biosci, 2010, 35(2):187-202.
[11]
Burke SL, Maramaldi P. The Social Security Administration's Compassionate Allowances Initiative:condition spotlight on Rubinstein-Taybi syndrome[J]. Health Soc Work, 2017, 42(1):e32-e43.
[12]
Wiley S. Rubinstein-Taybi syndrome medical guidelines[J]. Am J Med Genet A, 2003, 119A(2):101-110.
[13]
Waite J, Moss J, Beck SR, et al. Repetitive behavior in Rubinstein-Taybi syndrome:parallels with autism spectrum phenomenology[J]. J Autism Dev Disord, 2015, 45(5):1238-1253.
[14]
Wincent J, Luthman A, van Belzen M, et al. CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome[J]. Mol Genet Genomic Med, 2015, 4(1):39-45.
[15]
Bartsch O, Locher K, Meinecke P, et al. Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP[J]. J Med Genet, 2002, 39(7):496-501.
[16]
Schorry EK, Keddache M, Lanphear N, et al. Genotype-phenotype correlations in Rubinstein-Taybi syndrome[J]. Am J Med Genet A, 2008, 146A(19):2512-2519.
[17]
Murata T, Kurokawa R, Krones A, et al. Defect of histone acetyl transferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome[J]. Hum Mol Genet, 2001, 10(10):1071-1076.
[18]
Bartsh O, Rasi S, Delicado A, et al. Evidence for a new contiguous gene syndrome, the chromosoma 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome[J]. Hum Genet, 2006, 120(2):179-186.
