Somatic and germline FOXP3 mosaicism in the mother of a boy with IPEX syndrome

Eur J Immunol. 2018 May;48(5):885-887. doi: 10.1002/eji.201747445. Epub 2018 Feb 23.

Abstract

Confirmatory Sanger sequencing of whole exome sequencing first identified a somatic and germline FOXP3 mosaicism with two different mutational events of c.210 + 1G > T and c.210 + 1G > A in the mother of a boy with IPEX syndrome.

Keywords: FOXP3; IPEX syndrome; Mosaicism; Sanger sequencing; Whole exome sequencing.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Child
  • Child, Preschool
  • Diabetes Mellitus, Type 1 / congenital*
  • Diabetes Mellitus, Type 1 / diagnosis
  • Diabetes Mellitus, Type 1 / genetics
  • Diarrhea / diagnosis
  • Diarrhea / genetics*
  • Female
  • Forkhead Transcription Factors / genetics*
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Germ-Line Mutation / genetics*
  • Humans
  • Immune System Diseases / congenital*
  • Immune System Diseases / diagnosis
  • Immune System Diseases / genetics
  • Male
  • Mosaicism
  • Mothers
  • Sequence Analysis, DNA
  • T-Lymphocytes, Regulatory / cytology
  • T-Lymphocytes, Regulatory / immunology

Substances

  • FOXP3 protein, human
  • Forkhead Transcription Factors

Supplementary concepts

  • Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome