FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis

Gene. 2017 Sep 5:627:222-225. doi: 10.1016/j.gene.2017.06.033. Epub 2017 Jun 19.


The Forkhead box N1 (FOXN1) is a transcriptional factor regulating the development, differentiation and function of thymic epithelial cells; maintaining T-lineage progenitors in bone marrow; promoting terminal differentiation of epithelial cells of hair follicles. Mutation in FOXN1 was reported to cause a rare disorder characterized by rudimentary thymus gland, T-cell immunodeficiency, congenital alopecia and nail dystrophy within an Italian community. This is the first report of FOXN1 p.R255X mutation from India, outside this endogamous Italian community. Out of the two affected children, only one was alive during the genetic evaluation and had all the clinical manifestations such as alopecia totalis and nail dystrophy. The proband was homozygous for FOXN1 p.R255X Italian founder mutation. The carrier status of both the parents was established. Immunological study of the proband revealed total absence of T-cells confirming T-cell immunodeficiency. Prenatal diagnosis during third pregnancy revealed absence of FOXN1 mutation. To conclude, this is the first report of FOXN1 mutation from India highlighting that diseases once confined to certain geographical areas are spreading across the globe probably due to human migrations.

Keywords: Alopecia; FOXN1; Nail dystrophy; T-cell immunodeficiency.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Forkhead Transcription Factors / genetics*
  • Founder Effect
  • Genetic Testing / methods
  • Homozygote
  • Humans
  • India
  • Infant, Newborn
  • Mutation*
  • Prenatal Diagnosis / methods
  • Severe Combined Immunodeficiency / diagnosis
  • Severe Combined Immunodeficiency / genetics*
  • T-Lymphocytes / pathology


  • Forkhead Transcription Factors
  • Whn protein