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Updated: Jul 23, 2025

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咖啡馆牛奶点和口腔裂:不是一个偶然的协会

Mamiko Yamada¹, Katsumi Tanito², Hisato Suzuki¹

¹Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

|July 14, 2023

概括

一位患者罕见的15q14缺失导致了口腔裂,心脏缺陷,智力障碍和咖啡馆奶油斑. 基因组评估对于管理这些综合症状况至关重要.

科学领域:

遗传学遗传学是一种遗传学.
发展生物学发展生物学
临床医学临床医学

背景情况:

palatal cleft 的综合症形式需要特定的管理策略.
识别复杂表型的遗传基础对于个性化护理至关重要.

研究的目的:

报告一个患有15q14缺失的病人的病例,该病例表现出一系列症状,包括口腔裂,先天性心脏病,智力障碍和咖啡馆-au-lait斑点.
鉴定遗传缺失的特征,并将特定的基因与观察到的临床特征联系起来.

主要方法:

使用纳米孔长读技术进行全基因组测序,以识别染色体缺失.
断点映射精确定义被删除的区域.
删除基因与患者临床表现的相关性.

主要成果:

一名患者出现了口腔裂,先天性心脏病,智力障碍和咖啡馆奶油斑点.
鉴定出染色体15q14的缺失,覆盖了MEIS2和SPRED1的位置.
MEIS2删除与口腔裂有关,而SPRED1删除与咖啡馆牛奶斑点有关.

结论:

包含MEIS2和SPRED1的15q14删除与患者的综合征呈现有关.
患有 palatal cleft 和 café-au-lait 斑点的患者需要对15q14删除进行全面的基因组评估.
早期遗传诊断有助于量身定制的医疗和外科管理以及遗传咨询.

关键词:

裂口口腔的 palatal palatal 是一个口腔的裂口.基因基因基因基因遗传学遗传学遗传学是一个

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