Two Mutations in Thyroid Hormone Receptor Beta Gene (P453A and C36Y) in a Family with Resistance to Thyroid Hormone with Comorbid Myotonic Dystrophy.

Two Mutations in Thyroid Hormone Receptor Beta Gene (P453A and C36Y) in a Family with Resistance to Thyroid Hormone with Comorbid Myotonic Dystrophy. Thyroid. 2019 Jan 23;: Authors: Takeda K, Nemoto KI, Hayashi Y, Yamamoto M, Sakuta R, Kimura T, Noto H Abstract The co-occurrence of resistance to thyroid hormone beta (RTHß) and myotonic dystrophy type 1 (DM1) was observed in a Japanese family. Two mutations, P453A and C36Y, were identified in thyroid hormone receptor beta gene (THRB). Whereas family members with THRB-P453A exhibited RTHß, two members with THRB-C36Y but without THRB-P453A had normal thyroid function. Two members, one with RTHß and the other without, had a triplet expansion in DMPK (dystrophia myotonia protein kinase gene), a hallmark of DM1. The member with both RTHß and DM1 developed atrial fibrillation at the age of 16 years, suggesting a synergistic impact on the heart. PMID: 30672388 [PubMed - as supplied by publisher]
Source: Thyroid : official journal of the American Thyroid Association - Category: Endocrinology Tags: Thyroid Source Type: research