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异卵性COL17A1变种是导致非完美的乳腺发育的常见原因

Ummey Hany¹, Christopher M Watson^1,2, Lu Liu^1,3

¹Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK.

Journal of medical genetics

|November 18, 2023

概括

COL17A1中的遗传变异是主导性遗传性乳腺生成不完美 (AI) 的常见原因. 这一发现凸显了对AI或ERED患者的遗传咨询需要,以了解结节性表皮溶解牛 (JEB) 的潜在载体身份.

科学领域:

遗传学是一个遗传学.
皮肤病学皮肤病学
口腔生物学口腔生物学

背景情况:

众所周知,原XVII (COL17A1) 变体会引起结节性表皮溶解 (JEB) 和主导角膜上皮的复发性侵蚀缩 (ERED).
异构性COL17A1变种在导致非综合征性非完美生殖不完美 (AI) 的作用未被充分认识到.
JEB是一种严重的水泡疾病,而AI影响牙面膜的发育.

研究的目的:

调查COL17A1变异的频率和光谱,在个体与孤立的非综合征AI.
为了确定由异合体COL17A1变体引起的AI的临床表现.
评估AI,JEB和ERED之间的COL17A1变体的重叠情况.

主要方法:

使用分子逆向探针和杂交捕获,对AI队列进行COL17A1变异的选.
整个外基因组测序用于变体检测.
进行了临床检查和牙科分析,以评估患者的表型.

主要成果:

在19个与隔离AI无关的试验者中,发现了17个异合体,潜在的致病性COL17A1变体.
这些变异包括误解,过早终止,移和拼接部位突变.
人工智能类型的表型呈现出接近正常的质厚度,焦点低成形和表面不规则.

结论:

异合体的 COL17A1 变体是主要遗传的非综合征性 AI 的常见原因.
在COL17A1变种类型和AI,JEB和ERED之间的分布中存在显著的重叠.
由于COL17A1变体而导致AI或ERED的患者应评估潜在的JEB载体状态,并给予适当的咨询.

关键词:

在 COL17A1A1 中.结合物XVII 结合物XVII 结合物没有完美的 amelogenesis 不完美.结节性表皮溶解牛肉

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