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一个患有渐进性神经衰退的男孩,在KMT2D和VPS13D中存在着两个共存突变

Yu-Ming Chang¹, Yu-Wen Pan¹, Yen-Yin Chou²

¹Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.

Brain & development

|August 20, 2023

概括

这项研究报告了一种罕见的儿科病例,卡布基综合征 (KS) 和4型脊髓小脑动症 (SCAR4) 同时发生. 全外因子测序确定了KMT2D和VPS13D基因中的致病变体,有助于诊断复杂的神经发育障碍.

科学领域:

遗传学是一个遗传学.
神经科学是一个神经科学.
罕见疾病罕见疾病

背景情况:

卡布基综合征 (KS) 和脊髓小脑动症 (SCA) 是一种罕见的神经发育障碍.
在复杂的表型中区分遗传原因对预后具有挑战性.

研究的目的:

报告儿童患者中KS和SCAR4罕见的同时发生.
突出整体外体序列 (WES) 在复杂病例中的诊断实用性.

主要方法:

一个儿科患者的临床表现,患有渐进性动力衰竭,发育回归和肌细胞结合.
大脑MRI显示了特征性的T2加权超强度.
全外体测序 (WES) 在KMT2D (KS) 和VPS13D (SCAR4) 基因中确定了致病变体.

主要成果:

患者呈现出,发育回归,肌,生长激素缺乏,面部形,甲状腺功能低下和听力障碍.
WES发现了KMT2D (与KS相关) 中的一种致病变体,以及VPS13D (与SCAR4相关) 中的一种复合异构变体.
鉴定到的变异解释了复杂的表型,包括神经发育异常和性衰竭.

结论:

这一病例证明了卡布基综合征和自体逆性SCAR4在儿科患者中罕见的共存.
这些发现强调了WES在诊断异常表现的复杂神经发育障碍方面的重要性.
VPS13D基因变异可能导致儿科SCAR4表型,可能涉及线粒体功能障碍.

关键词:

在KMT2D中,KMT2D是KMT2D.卡布基综合征是什么意思脊髓大脑小骨性动脉衰竭这是一个VPS13D.整体外基因组的测序

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