Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).

ABSTRACT:

Purpose

Severe combined immunodeficiency (SCID) encompasses a group of disorders characterized by reduced or absent T-cell number and function and identified by newborn screening utilizing T-cell receptor excision circles (TRECs). This screening has also identified infants with T lymphopenia who lack mutations in typical SCID genes. We report an infant with low TRECs and non-SCID T lymphopenia, who proved upon whole exome sequencing to have Nijmegen breakage syndrome (NBS).

Methods

Exome sequencing of DNA from the infant and his parents was performed. Genomic analysis revealed deleterious variants in the NBN gene. Confirmatory testing included Sanger sequencing and immunoblotting and radiosensitivity testing of patient lymphocytes.

Results

Two novel nonsense mutations

SUBMITTER: Patel JP 

PROVIDER: S-EPMC4352190 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature