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

Mamanasiri, Sunee; Yesil, Sena; Dumitrescu, Alexandra; Liao, Xiao-Hui; Demir, TEVFİK; Weiss, Roy; Refetoff, Samuel

doi:10.1210/jc.2006-0727

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., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.91, sa.9, ss.3471-3477, 2006 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 91 Sayı: 9
Basım Tarihi: 2006
Doi Numarası: 10.1210/jc.2006-0727
Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.3471-3477
Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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).