First Chinese patient with mental retardation‑40 due to a <em>de novo</em> CHAMP1 frameshift mutation: Case report and literature review

Dong,Yan; Shi,Xiaoyi; Du,Kaixian; Xu,Ruijuan; Jia,Tianming; Wang,Jun; Wang,Lijun; Han,Rui

doi:10.3892/etm.2021.10339

First Chinese patient with mental retardation‑40 due to a de novo CHAMP1 frameshift mutation: Case report and literature review

Authors:
- Yan Dong
- Xiaoyi Shi
- Kaixian Du
- Ruijuan Xu
- Tianming Jia
- Jun Wang
- Lijun Wang
- Rui Han
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Affiliations: Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, P.R. China, Development and Behavior Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, P.R. China, Department of Children's Rehabilitation, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, P.R. China
Published online on: June 25, 2021 https://doi.org/10.3892/etm.2021.10339
Article Number: 907
Copyright: © Dong et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Mental retardation‑40 (MRD40) is a rare autosomal dominant neurodevelopmental disorder with a poor prognosis that is caused by a heterozygous mutation in chromosome alignment maintaining phosphoprotein 1 (CHAMP1). It was previously considered a non‑syndromic disease due to the lack of specific external features. Only limited international reports describing CHAMP1 mutations are currently available. The present case study was the first to report on a Chinese patient with MRD40. The patient presented with severe global development delay with significant craniofacial dysmorphia. Using trio whole‑exome sequencing, a novel de novo frameshift mutation in CHAMP1, NM_032436.2: c.530delCinsTTT, was identified, which expands the spectrum of the known pathogenic variants. The present case report helps to improve the syndromic profile of the rare MRD40 disorder and provides an example for the clinical diagnosis of MRD40.

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