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Updated: Jul 24, 2026

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在KAT6A中通过整体外基因组测序识别新出现的异合体变异:一个案例报告

Weitong Guo¹, Haoyu Wang², Shengjie Ling³

¹Jinan Institute of Child Health Care, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, China.

Translational pediatrics

|March 11, 2026

概括

由KAT6A基因突变引起的Arboleda-Tham综合征导致智力障碍. 整体外基因组测序在中国男孩身上发现了一种新的KAT6A变异,扩大了已知的突变谱.

科学领域:

遗传学是一个遗传学.
神经发育障碍神经发育障碍

背景情况:

阿博莱达-塔姆综合征是一种与KAT6A基因突变相关的自体主导性疾病.
它会导致智力障碍和多样化的表型,使得诊断具有挑战性.
现型异质性使KAT6A相关疾病的诊断变得复杂.

研究的目的:

为了确定一个中国男孩全球发育迟缓的遗传原因.
扩大已知的KAT6A基因突变的谱.
研究无法解释的神经发育障碍的遗传基础.

主要方法:

在探针和父母身上进行了全外体测序 (WES).
最初使用的是染色体副本数变异测序 (CNV-seq).
桑格测序证实了鉴定变异的新起源.

主要成果:

在KAT6A基因中发现了一种新型的新型异质合体变体 (c.4099del,p.Glu1367Argfs*40).
预计该变种会导致过早终止的子,并被归类为致病性.
通过初始CNV-seq.没有发现致病性异常.

结论:

这项研究扩大了KAT6A突变谱.
整体外体序列测序对于诊断儿童无法解释的神经发育障碍至关重要.
准确的基因诊断有助于提供精确的咨询,避免不必要的医学测试.

关键词:

氨酸乙转移酶6A (KAT6A) 是一种氨酸转移酶.案例报告案例报告基因变体基因变体精神障碍精神障碍是一种精神障碍.整体外基因组测序 (WES) 测序

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