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 

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

JOURNAL=Frontiers in Pediatrics

VOLUME=9

YEAR=2021

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2021.775488

DOI=10.3389/fped.2021.775488

ISSN=2296-2360

ABSTRACT=<p><bold>Background:</bold> FERM domain-containing protein 4A (<italic>FRMD4A</italic>) is a scaffolding protein previously proposed to be critical in the regulation of cell polarity in neurons and implicated in human intellectual development.</p><p><bold>Case Presentation:</bold> 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 <italic>FRMD4A</italic> gene [c.1830G&gt;A, p.(Met610Ile) and c.2973G&gt;C, p.(Gln991His)] were identified in the proband, and subsequent familial segregation showed that each parent had transmitted a mutation.</p><p><bold>Conclusions:</bold> Our results have confirmed the associations of mutations in the <italic>FRMD4A</italic> gene with intellectual development and indicated that for patients with unexplained global developmental delay, the <italic>FRMD4A</italic> 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.</p>