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Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia
Background: FERM domain-containing protein 4A (FRMD4A) is a scaffolding protein previously proposed to be critical in the regulation of cell polarity in neurons and implicated in human intellectual development. Case Presentation: We report a case of a 3-year-old boy with corpus callosum anomaly, rel...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8636088/ https://www.ncbi.nlm.nih.gov/pubmed/34869127 http://dx.doi.org/10.3389/fped.2021.775488 |
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author | Pan, Yuhua Guo, Xiaoling Zhou, Xiaoqiang Liu, Yue Lian, Jingli Yang, Tingting Huang, Xiang He, Fei Zhang, Jian Wu, Buling Xiong, Fu Yang, Xingkun |
author_facet | Pan, Yuhua Guo, Xiaoling Zhou, Xiaoqiang Liu, Yue Lian, Jingli Yang, Tingting Huang, Xiang He, Fei Zhang, Jian Wu, Buling Xiong, Fu Yang, Xingkun |
author_sort | Pan, Yuhua |
collection | PubMed |
description | Background: FERM domain-containing protein 4A (FRMD4A) is a scaffolding protein previously proposed to be critical in the regulation of cell polarity in neurons and implicated in human intellectual development. Case Presentation: We report a case of a 3-year-old boy with corpus callosum anomaly, relative macrocephaly, ataxia, and unexplained global developmental delay. Here, compound heterozygous missense mutations in the FRMD4A gene [c.1830G>A, p.(Met610Ile) and c.2973G>C, p.(Gln991His)] were identified in the proband, and subsequent familial segregation showed that each parent had transmitted a mutation. Conclusions: Our results have confirmed the associations of mutations in the FRMD4A gene with intellectual development and indicated that for patients with unexplained global developmental delay, the FRMD4A gene should be included in the analysis of whole exome sequencing data, which can contribute to the identification of more patients affected by this severe phenotypic spectrum. |
format | Online Article Text |
id | pubmed-8636088 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-86360882021-12-02 Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia Pan, Yuhua Guo, Xiaoling Zhou, Xiaoqiang Liu, Yue Lian, Jingli Yang, Tingting Huang, Xiang He, Fei Zhang, Jian Wu, Buling Xiong, Fu Yang, Xingkun Front Pediatr Pediatrics Background: FERM domain-containing protein 4A (FRMD4A) is a scaffolding protein previously proposed to be critical in the regulation of cell polarity in neurons and implicated in human intellectual development. Case Presentation: We report a case of a 3-year-old boy with corpus callosum anomaly, relative macrocephaly, ataxia, and unexplained global developmental delay. Here, compound heterozygous missense mutations in the FRMD4A gene [c.1830G>A, p.(Met610Ile) and c.2973G>C, p.(Gln991His)] were identified in the proband, and subsequent familial segregation showed that each parent had transmitted a mutation. Conclusions: Our results have confirmed the associations of mutations in the FRMD4A gene with intellectual development and indicated that for patients with unexplained global developmental delay, the FRMD4A gene should be included in the analysis of whole exome sequencing data, which can contribute to the identification of more patients affected by this severe phenotypic spectrum. Frontiers Media S.A. 2021-11-17 /pmc/articles/PMC8636088/ /pubmed/34869127 http://dx.doi.org/10.3389/fped.2021.775488 Text en Copyright © 2021 Pan, Guo, Zhou, Liu, Lian, Yang, Huang, He, Zhang, Wu, Xiong and Yang. https://creativecommons.org/licenses/by/4.0/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. |
spellingShingle | Pediatrics Pan, Yuhua Guo, Xiaoling Zhou, Xiaoqiang Liu, Yue Lian, Jingli Yang, Tingting Huang, Xiang He, Fei Zhang, Jian Wu, Buling Xiong, Fu Yang, Xingkun Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia |
title | Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia |
title_full | Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia |
title_fullStr | Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia |
title_full_unstemmed | Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia |
title_short | Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia |
title_sort | case report: a novel compound heterozygous mutation of the frmd4a gene identified in a chinese family with global developmental delay, intellectual disability, and ataxia |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8636088/ https://www.ncbi.nlm.nih.gov/pubmed/34869127 http://dx.doi.org/10.3389/fped.2021.775488 |
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