在患有发育缺陷的患者中,CPLANE1基因中的新型同卵性变异
Bhagyalakshmi Shankarappa1, Vishnu P Prasad2, Sujith Kumar2
1Molecular Genetics Lab, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, India.
Molecular syndromology
|February 6, 2025
概括
口腔-面部-数字综合征 (OFDS) 类型6是一种罕见的朱伯特综合征亚型. 这项研究在患有非典型OFDS特征的患者中发现了一种新的CPLANE1基因突变,这表明了罕见遗传综合征的新诊断途径.
科学领域:
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
- 神经学 神经学
背景情况:
- 口腔-面部-数字综合征 (OFDS) 6型是朱伯特综合征的罕见亚型.
- 它的特征是耳鼻面部异常,多动员,以及典型的乔伯特综合征的神经特征.
- 大多数OFDS亚型都表现出自体逆向遗传,其中OFDS类型1是X链主导的.
研究的目的:
- 为了研究一个表现为异型口腔面部特征和发育迟缓的患者的遗传基础.
- 识别与罕见综合征相关的新型遗传变异.
- 探索罕见综合征的遗传流行病学.
主要方法:
- 型分析以排除染色体异常.
- 临床外体序列和染色体微阵列用于检测遗传变异.
- 桑格测序用于变体确认和同卵性 (ROH) 分析.
主要成果:
- 在CPLANE1基因中发现了一种具有不确定的意义的新型变异 (c.365T>G,p.Val122Gly).
- 患者对该变体具有同胞性,而父母是异胞性,兄弟姐妹对野生类型的等位基因具有同胞性.
- 经过几次同卵性分析,在试验试剂中CPLANE1基因周围发现了显著的ROH.
结论:
- 在患有非典型口腔面部特征的患者中发现了CPLANE1基因的新型同卵性突变,这表明它在OFDS类型6中发挥了作用.
- 在一般人群中,罕见的,潜在的有害变异可能存在于异合体状态.
- 种群测序可以提高对罕见综合征遗传流行病学的理解.
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