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Nishihara E, Hishinuma A, Kogai T, et al. A Novel Germline Mutation of KEAP1 (R483H) Associated with a Non-Toxic Multinodular Goiter. Front Endocrinol (Lausanne). 2016;7:131doi: 10.3389/fendo.2016.00131.
Nishihara, E., Hishinuma, A., Kogai, T., Takada, N., Hirokawa, M., Fukata, S., Ito, M., Yabuta, T., Nishikawa, M., Nakamura, H., Amino, N., & Miyauchi, A. (2016). A Novel Germline Mutation of KEAP1 (R483H) Associated with a Non-Toxic Multinodular Goiter. Frontiers in endocrinology, 7131. https://doi.org/10.3389/fendo.2016.00131
Nishihara, Eijun, et al. "A Novel Germline Mutation of KEAP1 (R483H) Associated with a Non-Toxic Multinodular Goiter." Frontiers in endocrinology vol. 7 (2016): 131. doi: https://doi.org/10.3389/fendo.2016.00131
Nishihara E, Hishinuma A, Kogai T, Takada N, Hirokawa M, Fukata S, Ito M, Yabuta T, Nishikawa M, Nakamura H, Amino N, Miyauchi A. A Novel Germline Mutation of KEAP1 (R483H) Associated with a Non-Toxic Multinodular Goiter. Front Endocrinol (Lausanne). 2016 Sep 20;7:131. doi: 10.3389/fendo.2016.00131. eCollection 2016. PMID: 27703446; PMCID: PMC5028897.
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Front Endocrinol (Lausanne). 2016 Sep 20;7:131. doi: 10.3389/fendo.2016.00131. eCollection 2016.

A Novel Germline Mutation of KEAP1 (R483H) Associated with a Non-Toxic Multinodular Goiter.

Frontiers in endocrinology

Eijun Nishihara, Akira Hishinuma, Takahiko Kogai, Nami Takada, Mitsuyoshi Hirokawa, Shuji Fukata, Mitsuru Ito, Tomonori Yabuta, Mitsushige Nishikawa, Hirotoshi Nakamura, Nobuyuki Amino, Akira Miyauchi

Affiliations

  1. Center for Excellence in Thyroid Care, Kuma Hospital , Kobe , Japan.
  2. Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University , Mibu , Japan.

PMID: 27703446 PMCID: PMC5028897 DOI: 10.3389/fendo.2016.00131

Abstract

BACKGROUND: A germline mutation of

PATIENT FINDINGS: We report a 47-year-old Japanese woman who presented with hyperthyroidism and a large multinodular goiter. The family history was notable for a paternal history of goiter. Graves' disease was diagnosed based on positive TRAb, but scintiscan imaging showed that the patient's radioiodine uptake was restricted in the non-nodular areas, indicating largely cold nodules. A total thyroidectomy was performed. The resected thyroid tissue weighed 209 g, and subsequent pathological findings were benign. The patient had a germline heterozygous KEAP1 mutation, c. 1448 G > A, resulting in an amino acid substitution (p.R483H). A next-generation sequencing analysis covering all known genes associated with multinodular goiter showed no additional germline mutation. The nuclear accumulation of NRF2, a protein associated with KEAP1, was shown at much higher rates in the patient's nodules compared with nodules obtained from four unrelated patients with multinodular goiters.

CONCLUSION: A novel germline mutation (R483H) of

Keywords: Graves’ disease; KEAP1 germline mutation; NRF2 expression; familial goiter; multinodular goiter

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