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A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.

Neurogenetics - 1 Oct 2023

Li Nana, Kang Hong, Zou Yanna, Liu Zhen, Deng Ying, Wang Meixian, Li Lu, Qin Hong, Qiu Xiaoqiong, Wang Yanping, Zhu Jun, Agostino Mark, Heng Julian I-T, Yu Ping

Abstract excerpt

Intellectual disability (ID) is a common neurodevelopmental disorder characterized by significantly impaired adaptive behavior and cognitive capacity. High throughput sequencing approaches have revealed the genetic etiologies for 25-50% of ID patients, while inherited genetic mutations were detected in <5% cases. Here, we investigated the genetic cause for non-syndromic ID in a Han Chinese family. Whole genome...

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PMID: 37525067
DOI: 10.1007/s10048-023-00727-7

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