Case Report ARTICLE
A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report
- 1Maternity and Child Health Care Hospital, Nanjing Medical University, China
Autosomal dominant mental retardation-7 (MRD7) is a rare anomaly, characterized by severe intellectual disability, feeding difficulties, behavior abnormalities, distinctive facial features, including microcephaly, deep-set eyes, large simple ears, and a pointed or bulbous nasal tip. Some studies show that the disorder has a close correlation with variants in DYRK1A. Herein we described a Chinese girl presenting typical clinical features diagnosed at four years old. Whole exome sequencing of the familial genomic DNA identified a novel mutation c.930C>A (p.Tyr310*) in exon 7 of DYRK1A in the proband. The nonsense mutation was predicted to render the truncation of the protein. Our results suggested that the de novo heterozygous mutation in DYRK1A was responsible for the MRD7 in this Chinese family, which both extended the knowledge of mutation spectrum in MRD7 patients and highlighted the clinical application of exome sequencing.
Keywords: DYRK1A, Intellectual Disability, Microcephaly, nonsense mutation, whole exome sequencing
Received: 01 Feb 2019;
Accepted: 29 Oct 2019.
Copyright: © 2019 Xu, Hu, Qiao, Shao, Wang, Wang, Zhou, Liu and Meng. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Prof. Zhengfeng Xu, Maternity and Child Health Care Hospital, Nanjing Medical University, Nanjing, China, firstname.lastname@example.org
PhD. Ping Hu, Maternity and Child Health Care Hospital, Nanjing Medical University, Nanjing, China, email@example.com