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Rubinstein-Taybi综合征是一种有明确定义的多发性先天畸形伴智力发育迟缓综合征。本研究中两例患儿均因特殊面容、发育迟缓、拱形粗眉、眼裂下斜、大拇指及大脚趾短且宽，伴有语言认知障碍、骨性鼻泪管发育异常等症状于我院医学遗传中心就诊，全外显子组测序结果提示患儿1的CREBBP基因存在c.2737C>T(p.Q913*)变异，患儿2的CREBBP基因存在c.3178A>T(p.K1060*)变异。对其父母进行Sanger测序验证，结果显示均为野生型。根据患儿临床症状及基因检测结果，诊断为CREBBP基因变异导致的Rubinstein-Taybi综合征。本文报道的两例病例均为新发突变，拓展了Rubinstein-Taybi综合征的突变谱，为该病的诊断及遗传咨询提供了科学指导。
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基本信息:
中图分类号:R596.1
引用信息:
[1]马斌,于菲,杨玉婷,等.CREBBP基因新发变异导致Rubinstein-Taybi综合征2例并文献复习[J].生殖医学杂志,2024,33(08):1104-1108.
基金信息:
甘肃省科技计划资助项目(22YF7FA094); 兰州市科技计划项目(2021-1-182); 甘肃省科技厅创新基地及人才计划(21JR7RA680)
2024-08-15
2024-08-15