WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family

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• 作者：Chen Jiang ; Nan Gai ; Yongyi Zou ; Yu Zheng ; Ruiyu Ma ; Xianda Wei ; Desheng Liang ; Lingqian Wu ; ^{wulingqian@sklmg.edu.cn}
• 关键词：Intellectual disability ; Cerebellar hypoplasia ; WDR73 ; Galloway-Mowat syndrome
• 刊名：Clinica Chimica Acta
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：464
• 期：Complete
• 页码：24-29
• 全文大小：1082 K
• 卷排序：464

文摘

We find a novel deleterious WDR73 homozygous missense mutation in a consanguineous family. This is the first report on Chinese patients with WDR73 deficiency. We first suggest WDR73 to be a candidate gene of severe ID and cerebellar hypoplasia. The affected siblings in this report are the eldest living patients with WDR73 deficiency. This report is the first to suggest that microcephaly is a variable phenotype in WDR73-related disease.