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案例报告:智力障碍和边缘智力功能在两个姐妹的损失12p11.22损失

Haemi Choi¹, Jeong-A Kim¹, Kyung-Ok Cho^2,3,4,5

¹Department of Psychiatry, Eunpyeong St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

Frontiers in genetics

|April 17, 2024

概括

遗传分析显示,在患有轻度智力障碍 (ID) 和边缘智力功能 (BIF) 的兄弟姐妹中,存在12p11.22删除. 这一发现可能解释了他们的认知障碍,并扩大了对轻度智障遗传原因的知识.

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:

遗传异常是严重智力障碍 (ID) 的确立原因.
对轻度的ID和边缘智力功能 (BIF) 的遗传诊断仍然具有挑战性,原因是未识别的致病变体.
在轻度的ID/BIF病例中,基因测试对于预后和复发风险评估至关重要.

研究的目的:

在两个兄弟姐妹身上调查轻度ID和BIF的遗传基础.
识别与受影响个体及其父亲认知障碍相关的潜在致病性遗传变异.

主要方法:

临床评估和染色体微阵列分析在两个表现出发育迟缓的兄弟姐妹身上进行.
基因分析确定了患者及其父亲的特定染色体缺失.

主要成果:

两名被诊断为轻度ID和BIF的兄弟姐妹被发现有12p11.22的共同损失,包括OVCH1-AS1,OVCH1和TMTC1基因.
在他们的父亲身上发现了同样的变异,他可能表现出BIF.
在这些患者中,没有发现大脑结构异常,异形或外部因素.

结论:

包括OVCH1-AS1,OVCH1和TMTC1在内的12p11.22的丢失与研究中的兄弟姐妹中观察到的认知障碍密切相关.
这些遗传变异代表了可能引起疾病的因素,扩大了对轻度ID和BIF遗传原因的理解.

关键词:

12p删除删除的方法在CNV中,CNV是NV.染色体微阵列分析分析认知障碍是一种认知障碍.神经发育障碍是一种神经发育障碍.

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