Article
Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.
JAMA ophthalmology - 1 Sept 2016
Hull Sarah, Malik Aeesha N J, Arno Gavin, Mackay Donna S, Plagnol Vincent, Michaelides Michel, Mansour Sahar, Albanese Assunta, Brown Katrina Tatton, Holder Graham E, Webster Andrew R, Heath Paul T, Moore Anthony T
Abstract excerpt
IMPORTANCE: A multiorgan syndromic disorder characterized by sideroblastic anemia, immunodeficiency, periodic fever, and developmental delay with an uncharacterized retinal dystrophy is caused by TRNT1. This report of a family with a homozygous mutation in TRNT1 expands the ocular phenotype to include cataract and inner retinal dysfunction and details a mild systemic phenotype. OBSERVATIONS: A consanguineous...
Topics
- Adolescent
- Cataract
- Child
- Child, Preschool
- Exome
- Female
- Humans
- Immunologic Deficiency Syndromes
- Infant
- Male
- Mutation
- Nucleotidyltransferases
- Pedigree