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Updated: Sep 20, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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Published on: January 16, 2019

传染病原体KAT6B变异的可变表达性

Ninna Bager Rasmussen¹, Pernille Axél Gregersen², Trine Østergaard Nielsen¹

¹Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.

European journal of medical genetics

|May 29, 2025

概括

氨酸乙转移酶6B (KAT6B) 中的致病变体会导致罕见的遗传疾病. 这项研究在丹麦一家中发现了一种新的KAT6B变异,表明它可以被遗传并引起可变的症状,扩大已知的KAT6B疾病谱.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
临床医学临床医学

背景情况:

氨酸乙转移酶6B (KAT6B) 的致病变体与塞伯-巴伯-比塞克--辛普森综合征 (SBBYSS) 和基因细胞细胞综合征 (GPS) 有关.
最近的发现表明,KAT6B疾病代表了一种具有重叠临床特征的频谱.
KAT6B变种主要是de novo,报告的遗传病例很少.

研究的目的:

报告三代家族中一种新型致病性KAT6B变异的临床和分子发现.
研究KAT6B疾病的遗传模式和表型变异性.
为了解KAT6B疾病作为广泛的临床频谱做出贡献.

主要方法:

对三代受影响个体的临床评估.
分子遗传分析以识别和确认KAT6B变种.
在家庭内进行分离分析,以确定继承模式.

主要成果:

一种以前未报告的致病性KAT6B变种被确定并分离在家族内.
这种变异与与经典SBBYSS或GPS不同的表型有关.
观察到显著的可变表达性和家族内可变性,包括从轻度受影响的父母遗传.

结论:

应将KAT6B疾病视为一个广泛的临床谱,包括超越SBBYSS和GPS的表型.
致病性KAT6B变种可以从父母遗传,症状轻微或未被识别.
这项研究强调了在KAT6B相关疾病中考虑家族遗传和可变表达性的重要性.

关键词:

发育迟缓发展迟缓基因带综合征是基因带综合征.家庭内部的表型变异性.在 KAT6B 中,KAT6B 是说吧-理发-Biesecker-年轻-辛普森综合征整个外体组的测序.

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