Santos Victor, Souza Pedro Paulo Chaves de, Campos Talyta, Winterly Hiane, Vieira Thaís, Gigonzac Marc, Honda Alex, Pinto Irene, Zatarin Raffael, Azevedo Fernando, Nascimento Anna, da Silva Cláudio, da Cruz Aparecido
Graduate Program in Genetics and Molecular Biology, Federal University of Goiás, Goiânia 74605-050, GO, Brazil.
Replicon Research Nucleus, Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Goiânia 74605-050, GO, Brazil.
Genes (Basel). 2025 Jul 29;16(8):910. doi: 10.3390/genes16080910.
Rubinstein-Taybi Syndrome type 1 (RSTS1) is an uncommon autosomal dominant genetic disorder associated with neurodevelopmental impairments and multiple congenital anomalies, with an incidence of 1:100,000-125,000 live births. The syndrome, caused by de novo mutations in the CREBBP gene, is characterized by phenotypic variability, including intellectual disability, facial dysmorphisms, and systemic abnormalities. The current case report describes a 15-year-old Brazilian female diagnosed with RSTS1 through whole-exome sequencing, which identified a de novo heterozygous missense mutation in the CREBBP gene (NM_004380.3; c.4393G > C; p.Gly1465Arg), classified as pathogenic. The patient's clinical presentation included facial dysmorphisms, skeletal abnormalities, neurodevelopmental delay, psychiatric conditions, and other systemic manifestations. A comprehensive genetic counseling process facilitated the differential diagnosis and management strategies, emphasizing the importance of early and precise diagnosis for improving clinical outcomes. This report contributes to the growing knowledge of the genotype-phenotype correlations in RSTS1, aiding in the understanding and management of this uncommon condition.
1型鲁宾斯坦-泰比综合征（RSTS1）是一种罕见的常染色体显性遗传病，与神经发育障碍和多种先天性异常相关，活产发病率为1:100,000 - 125,000。该综合征由CREBBP基因的新发突变引起，其特征为表型变异，包括智力残疾、面部畸形和全身异常。本病例报告描述了一名15岁的巴西女性，通过全外显子组测序被诊断为RSTS1，该测序在CREBBP基因（NM_004380.3；c.4393G > C；p.Gly1465Arg）中鉴定出一个新发的杂合错义突变，分类为致病性突变。患者的临床表现包括面部畸形、骨骼异常、神经发育迟缓、精神疾病和其他全身表现。一个全面的遗传咨询过程促进了鉴别诊断和管理策略，强调了早期准确诊断对改善临床结果的重要性。本报告有助于增加对RSTS1基因型-表型相关性的认识，有助于理解和管理这种罕见疾病。
