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

Dong, Yan; Shi, Xiaoyi; Du, Kaixian; Xu, Ruijuan; Jia, Tan; Wang, Jun; Wang, Lijun; Han, Renfang

doi:10.3892/etm.2021.10339

Cited by 3 publications

(2 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Importantly, while most of the cases described until now [ 14 , 16 , 17 , 24 , 25 , 26 , 27 , 31 , 32 ] ( Table S1 ) present either with microcephaly (22/45) or normal head circumference (23/45), the patient described in this paper as well as only another patient identified by Levy et al in 2022 [ 16 ] present with macrocephaly, illustrating once more the clinical heterogeneity of this disease and highlighting the challenges encountered in the clinical diagnosis of patients affected with NDD. Furthermore, 10 out of the 45 cases described in the literature ( Table S1 ), in addition to our patient showed high sensitivity to pain.…”

Section: Discussionmentioning

confidence: 99%

CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature

Raad

Yazbeck‐Karam

Chouery

et al. 2023

Genes

View full text Add to dashboard Cite

Intellectual disability (ID) is a prevalent neurodevelopmental disorder characterized by limitations in intellectual functioning and adaptive behavior. While the causes of ID are still largely unknown, it is believed to result from a combination of environmental exposures and genetic abnormalities. Recent advancements in genomic studies and clinical genetic testing have identified numerous genes associated with neurodevelopmental disorders (NDDs), including ID. One such gene is CHAMP1, which plays a role in chromosome alignment and has been linked to a specific type of NDD called CHAMP1 disease. This report presents the case of a 21-year-old Lebanese female patient with a de novo mutation in CHAMP1. In addition to ID and NDD, the patient exhibited various clinical features such as impaired language, dysmorphic features, macrocephaly, thoracic hyperkyphosis, decreased pain sensation, and metabolic syndrome. These findings expand the understanding of the clinical spectrum associated with CHAMP1 mutations and highlight the importance of comprehensive follow-up for improved prognosis. Overall, this case contributes to the knowledge of CHAMP1-related NDDs by describing additional clinical features associated with a CHAMP1 mutation. The findings underscore the need for accurate diagnosis, thorough follow-up, and personalized care for individuals with CHAMP1 mutations to optimize their prognosis.

show abstract

Section: Discussionmentioning

confidence: 99%

CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature

Raad

Yazbeck‐Karam

Chouery

et al. 2023

Genes

View full text Add to dashboard Cite

show abstract

“…There are several genes mapped on chromosomes 13 and 18 recognized as the players in the maintenance of redox balance [ 60 ]. Chromosome 13 mapping demonstrated the presence of genes associated with copper transport (ATPase copper transporting beta; ATP7B ), tumor suppression (breast cancer 2; BRCA2 ), the inhibition of cell cycle processes, chromatin remodeling (retinoblastoma transcriptional corepressor 1; RB1 ), chromosome stability maintenance and regulations of chromosome segregation in mitosis (chromosome alignment-maintaining phosphoprotein 1; CHAMP1 ), and oxidative mitochondrial processes (mitochondrial intermediate peptidase; MIPEP ), all of which are relevant in T13 pathogenesis [ 61 , 62 , 63 , 64 ]. The proper expression of the ATP7B gene is implicated in copper homeostasis, the deregulation of which may result in the development of many pathologies, especially those related to metabolic, cardiovascular and neurodegenerative diseases, and cancer [ 65 ].…”

Section: Genetic Basis Of the T13 And T18 Pathogenesesmentioning

confidence: 99%

Future Perspectives in Oxidative Stress in Trisomy 13 and 18 Evaluation

Buczyńska

Sidorkiewicz

Hameed

et al. 2022

JCM

View full text Add to dashboard Cite

Autosomal aneuploidies are the most frequently occurring congenital abnormalities and are related to many metabolic disorders, hormonal dysfunctions, neurotransmitter abnormalities, and intellectual disabilities. Trisomies are generated by an error of chromosomal segregation during cell division. Accumulating evidence has shown that deregulated gene expression resulting from the triplication of chromosomes 13 and 18 is associated with many disturbed cellular processes. Moreover, a disturbed oxidative stress status may be implicated in the occurrence of fetal malformations. Therefore, a literature review was undertaken to provide novel insights into the evaluation of trisomy 13 (T13) and 18 (T18) pathogeneses, with a particular concern on the oxidative stress. Corresponding to the limited literature data focused on factors leading to T13 and T18 phenotype occurrence, the importance of oxidative stress evaluation in T13 and T18 could enable the determination of subsequent disturbed metabolic pathways, highlighting the related role of mitochondrial dysfunction or epigenetics. This review illustrates up-to-date T13 and T18 research and discusses the strengths, limitations, and possible directions for future studies. The progressive unification of trisomy-related research protocols might provide potential medical targets in the future along with the implementation of the foundation of modern prenatal medicine.

show abstract

Deficiency of CHAMP1, a gene related to intellectual disability, causes impaired neuronal development and a mild behavioural phenotype

Nagai

Iemura

Kikkawa

et al. 2022

Brain Communications

View full text Add to dashboard Cite

CHAMP1 is a gene associated with intellectual disability, which was originally identified as being involved in the maintenance of kinetochore–microtubule attachment. To explore the neuronal defects caused by CHAMP1 deficiency, we established mice that lack CHAMP1. Mice that are homozygous knockout for CHAMP1 were slightly smaller than wild type mice and died soon after birth on pure C57BL/6J background. Although gross anatomical defects were not found in CHAMP1-/- mouse brains, mitotic cells were increased in the cerebral cortex. Neuronal differentiation was delayed in CHAMP1-/- neural stem cells in vitro, which was also suggested in vivo by CHAMP1 knockdown. In a behavioral test battery, adult CHAMP1 heterozygous-knockout mice showed mild memory defects, altered social interaction, and depression-like behaviors. In transcriptomic analysis, genes related to neurotransmitter transport and neurodevelopmental disorder were downregulated in embryonic CHAMP1-/- brains. These results suggest that CHAMP1 plays a role in neuronal development, and CHAMP1-deficient mice resemble some aspects of individuals with CHAMP1 mutations.

show abstract

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

Cited by 3 publications

References 16 publications

CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature

CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature

Future Perspectives in Oxidative Stress in Trisomy 13 and 18 Evaluation

Deficiency of CHAMP1, a gene related to intellectual disability, causes impaired neuronal development and a mild behavioural phenotype

Contact Info

Product

Resources

About