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, rela...

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Autores principales:	Yuhua Pan, Xiaoling Guo, Xiaoqiang Zhou, Yue Liu, Jingli Lian, Tingting Yang, Xiang Huang, Fei He, Jian Zhang, Buling Wu, Fu Xiong, Xingkun Yang
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	global developmental delay (GDD) compound heterozygous missense mutations corpus callosum anomaly FRMD4A intellectual disability Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/39ec616e47284a779f0000077845db2c
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spelling	oai:doaj.org-article:39ec616e47284a779f0000077845db2c2021-11-17T16:34:04ZCase Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia2296-236010.3389/fped.2021.775488https://doaj.org/article/39ec616e47284a779f0000077845db2c2021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fped.2021.775488/fullhttps://doaj.org/toc/2296-2360Background: 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.Yuhua PanXiaoling GuoXiaoqiang ZhouYue LiuJingli LianTingting YangXiang HuangFei HeJian ZhangBuling WuFu XiongFu XiongFu XiongXingkun YangFrontiers Media S.A.articleglobal developmental delay (GDD)compound heterozygous missense mutationscorpus callosum anomalyFRMD4Aintellectual disabilityPediatricsRJ1-570ENFrontiers in Pediatrics, Vol 9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	global developmental delay (GDD) compound heterozygous missense mutations corpus callosum anomaly FRMD4A intellectual disability Pediatrics RJ1-570
spellingShingle	global developmental delay (GDD) compound heterozygous missense mutations corpus callosum anomaly FRMD4A intellectual disability Pediatrics RJ1-570 Yuhua Pan Xiaoling Guo Xiaoqiang Zhou Yue Liu Jingli Lian Tingting Yang Xiang Huang Fei He Jian Zhang Buling Wu Fu Xiong Fu Xiong Fu Xiong Xingkun Yang Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia
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	article
author	Yuhua Pan Xiaoling Guo Xiaoqiang Zhou Yue Liu Jingli Lian Tingting Yang Xiang Huang Fei He Jian Zhang Buling Wu Fu Xiong Fu Xiong Fu Xiong Xingkun Yang
author_facet	Yuhua Pan Xiaoling Guo Xiaoqiang Zhou Yue Liu Jingli Lian Tingting Yang Xiang Huang Fei He Jian Zhang Buling Wu Fu Xiong Fu Xiong Fu Xiong Xingkun Yang
author_sort	Yuhua Pan
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_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_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_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
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/39ec616e47284a779f0000077845db2c
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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

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