FOXP3 Mutation in a Patient with Proportional Microcephaly and Developmental Delay.
10.26815/jkcns.2017.25.4.266
- Author:
Hwa Jin CHO
1
;
Ga Eun CHOI
;
Young Ok KIM
;
Chungoo PARK
;
Eun Mi YANG
;
Chan Jong KIM
;
Myeong Kyu KIM
;
Myung Geun SHIN
;
Young Jong WOO
Author Information
1. Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea. ik052@jnu.ac.kr
- Publication Type:Case Report
- Keywords:
Microcephaly;
Failure to thrive;
Growth and development;
Gene;
Seizures;
Atopic dermatitis
- MeSH:
Dermatitis, Atopic;
Diarrhea;
Failure to Thrive;
Fluorescence;
Growth and Development;
Humans;
Leukocytes;
Male;
Microcephaly*;
Mothers;
Seizures
- From:
Journal of the Korean Child Neurology Society
2017;25(4):266-270
- CountryRepublic of Korea
- Language:English
-
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.
