一例 Rubinstein-Taybi 综合征中新型 CREBBP 突变及其表型。
A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome.
机构信息
Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology and Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, 1 Dong Jiao Min Xiang, Beijing, 100730, China.
Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, Third Clinical Medical College of Ningxia Medical University, Huanghe Road, Jinfeng District, Yinchuan, 750002, Ningxia Hui Autonomous Region, China.
出版信息
BMC Med Genomics. 2022 Aug 19;15(1):182. doi: 10.1186/s12920-022-01335-4.
BACKGROUND
This study was to report a novel CREBBP mutation and phenotype in a child with Rubinstein-Taybi syndrome.
METHODS
Case report of a 9-year-old boy.
RESULTS
We described the patient's clinical manifestations in detail, and found that in addition to the typical systemic manifestations of the syndrome, the outstanding manifestation of the child was severe intellectual deficiency and prominent ocular abnormalities. Whole-exome sequencing and sanger sequencing were performed on the patient and his parents, a large intragenic deletion, covering the exon 1 region and part of the intron 1 region of the TRAP1 gene, and the entire region from intron 27 to exon 30 of the CREBBP gene (chr16:3745393-3783894) was identified on the patient. This mutation affected the CREBBP histone acetyltransferase (HAT) domain.
CONCLUSIONS
This findings in our patient add to the spectrum of genetic variants described in Rubinstein-Taybi syndrome and present a RSTS patient with various ocular anomalies including early onset glaucoma.
背景
本研究报道了一例 Rubinstein-Taybi 综合征患儿的 CREBBP 基因突变及表型。
方法
对一名 9 岁男孩的病例进行报告。
结果
详细描述了患者的临床表现，发现除了该综合征的典型全身表现外，患儿的突出表现为严重智力缺陷和明显的眼部异常。对患者及其父母进行了全外显子组测序和 Sanger 测序，发现患者存在一个大片段基因内缺失，覆盖了 TRAP1 基因的外显子 1 区域和部分内含子 1 区域，以及 CREBBP 基因的内含子 27 到外显子 30 区域（chr16:3745393-3783894）。该突变影响了 CREBBP 组蛋白乙酰转移酶（HAT）结构域。
结论
本研究中患者的发现增加了 Rubinstein-Taybi 综合征中描述的遗传变异谱，并提出了一例伴有各种眼部异常（包括早发性青光眼）的 RSTS 患者。
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