Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone

Mamanasiri S., Yesil S., Dumitrescu A. M., Liao X., Demir T., Weiss R. E., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.91, no.9, pp.3471-3477, 2006 (SCI-Expanded) identifier identifier identifier


Context: Heterozygous mutations in thyroid hormone receptor-beta (TR beta) gene are the cause of resistance to thyroid hormone (RTH) in more than 85% of families having the syndrome. In 23% of the families, TR beta gene mutations occur de novo. Of the 141 families with RTH investigated by us, 21 (15%) had no TR beta gene mutations detectable by sequencing from genomic DNA (gDNA) or cDNA (non-TR RTH).