FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis
September 2017
in “
Gene
”
FOXN1 p.R255X mutation congenital alopecia nail dystrophy rudimentary thymus gland T-cell immunodeficiency genetic evaluation homozygous carriers immunological analysis T-cells prenatal diagnosis prenatal screening hair loss nail disorder thymus gland immune deficiency genetic testing genetic carriers immune cells prenatal testing
TLDR A rare genetic mutation found in an Indian family can be detected through prenatal screening.
The study reported the first case of the FOXN1 p.R255X mutation in an Indian family, previously identified only in an Italian community. This mutation caused a rare disorder characterized by congenital alopecia, nail dystrophy, rudimentary thymus gland, and T-cell immunodeficiency. Out of two affected children, one was alive and exhibited all clinical symptoms. Genetic evaluation confirmed the proband was homozygous for the mutation, and both parents were carriers. Immunological analysis showed a total absence of T-cells in the proband. Prenatal diagnosis during a subsequent pregnancy revealed no mutation, indicating the potential for prenatal screening. This case highlighted the global spread of genetic diseases due to human migration.
