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- Title
Variable Clinical Phenotypes in a Family with Homozygous c.1159G>A Mutation in the Thyroid PeroxidaseGene.
- Authors
Lee, Ching Chin; Harun, Fatimah; Jalaludin, Muhammad Yazid; Heh, Choon Han; Othman, Rozana; Kang, In Nee; Mat Junit, Sarni
- Abstract
Background: Defects in the thyroid peroxidase (TPO) gene have been associated with goitrous congenital hypothyroidism (CH). Case Report: In this study, we report 3 siblings possessing a homozygous mutation, c.1159G>A, but exhibiting different clinical phenotypes in a Malaysian-Malay family. The index patient was diagnosed with CH during a routine neonatal screening but the other 2 siblings appeared to be asymptomatic until the ages of 19 and 12.5, respectively, when they started to develop goiter. Results and Conclusion: The mutation was predicted to interrupt the correct splicing of pre-mRNA and also lead to structural alterations in the functional sites of the mutant TPO. The current results suggest the association of goiter development with a homozygous c.1159G>A mutation, but the CH in the index patient could be triggered by other genetic and epigenetic factors distinct from the c.1159G>A mutation. © 2014 S. Karger AG, Basel
- Subjects
IODIDE peroxidase; GENETIC mutation; CONGENITAL hypothyroidism; MEDICAL screening; GOITER; MESSENGER RNA
- Publication
Hormone Research in Paediatrics, 2014, Vol 81, Issue 5, p356
- ISSN
1663-2818
- Publication type
Article
- DOI
10.1159/000359922