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J Korean Child Neurol Soc. 2017 Dec;25(4):266-270. English. Case Report. https://doi.org/10.26815/jkcns.2017.25.4.266
Cho HJ , Choi GE , Kim YO , Park C , Yang EM , Kim CJ , Kim MK , Shin MG , Woo YJ .
Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea. ik052@jnu.ac.kr
School of Biological Sciences and Technology, Chonnam National University, Gwangju, Korea.
Department of Neurology, Chonnam National University Medical School, Gwangju, Korea.
Department of Laboratory Medicine, Chonnam National University Medical School, Gwangju, Korea.
Abstract

Most cases of microcephaly with growth failure and developmental delay have a genetic or metabolic etiology. Whole-exome sequencing (WES) has uncovered many causative genes and has also broadened their phenotypic spectrum. The present study applied WES to a boy with microcephaly, growth failure, developmental delay, seizures and atopic dermatitis, which reveal an unexpected frame-shift mutation (c.1248_1253delinsCT, NM_014009.3; p.Lys416Asnfs, NP_054728.2) in the forkhead box P3 gene (FOXP3). Mutations of this gene are known to result in immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Mutation of FOXP3 was reverified by Sanger sequencing in the proband and his carrier mother. Flow-cytometry expression study of FOXP3 in peripheral white blood cells showed that the mean fluorescence intensity of FOXP3 was lower in the proband than in a normal control. We report a mild form of IPEX syndrome without chronic protracted diarrhea or major infections, instead presenting with proportional microcephaly, growth failure, developmental delay, seizures and atopic dermatitis.

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