Avtor/Urednik		Avbelj, Magdalena; Tahirović, Husref; Debeljak, Maruša; Kusekova, Maria; Toromanović, Alma; Kržišnik, Ciril; Battelino, Tadej
Naslov		High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis
Tip		članek
Vir		Eur J Endocrinol
Vol. in št.		Letnik 156, št. 5
Leto izdaje		2007
Obseg		str. 511-9
Jezik		eng, slv
Abstrakt		Objective: Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism (CH). Thyroid peroxidase gene (TPO) mutations are one of the most common causes of thyroid dyshormonogenesis. The aim of this study was to identify TPO gene defects in a cohort of patients with thyroid dyshormonogenesis from Slovenia, Bosnia, and Slovakia. Design and methods: Forty-three patients with permanent CH and orthoptic thyroid glands from 39 unrelated families participated in the study. Mutational analysis of the TPO gene and part of its promoter consisted of single-stranded conformation polymorphism analysis, sequencing, and restriction fragment length polymorphism (RFLP) analysis. Results: TPO gene mutations were identified in 46% of participants. Seven different mutations were identified, four mutations of these being novel, namely 613C > T (R175X), 1519_1539del (A477_N483del), 2089G > A (G667S), and 2669G > A (G860R). Only a single allele mutation was identified in 65% of the TPO mutation carriers. Conclusion: The results showed a higher prevalence of TPO gene mutations in thyroid dyshormonogenesis when compared with published studies. The high percentage of single allele mutations implied possible intronic or regulatory TPO gene mutations or monoallelic expression.
Deskriptorji		ADULT AMINO ACID SEQUENCE BASE SEQUENCE CHILD CHILD, PRESCHOOL COHORT STUDIES DNA DNA MUTATIONAL ANALYSIS IODIDE PEROXIDASE MOLECULAR SEQUENCE DATA POLYMORPHISM, RESTRICTION FRAGMENT LENGTH POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL PROMOTER REGIONS (GENETICS) SEQUENCE ANALYSIS, DNA THYROGLOBULIN THYROTROPIN THYROXINE