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Brief Report
- Adrenal Gland
- A Novel Missense PRKAR1A Variant Causes Carney Complex
- Boram Kim, Han Na Jang, Kyung Shil Chae, Ho Seop Shin, Yong Hwy Kim, Su Jin Kim, Moon-Woo Seong, Jung Hee Kim
- Endocrinol Metab. 2022;37(5):810-815. Published online October 4, 2022
- DOI: https://doi.org/10.3803/EnM.2022.1544
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- 1 Web of Science
- 1 Crossref
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Abstract
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Supplementary Material
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ePub - The Carney complex (CNC) is an autosomal dominant disorder characterized by endocrine and nonendocrine tumors. Loss-of-function variants of protein kinase A regulatory subunit 1 alpha (PRKAR1A) are common causes of CNC. Here, we present the case of a patient with CNC with a novel PRKAR1A missense variant. A 21-year-old woman was diagnosed with CNC secondary to acromegaly and adrenal Cushing syndrome. Genetic analysis revealed a novel missense heterozygous variant of PRKAR1A (c.176A>T). Her relatives, suspected of having CNC, also carried the same variant. RNA analysis revealed that this variant led to nonsense-mediated mRNA decay. In vitro functional analysis of the variant confirmed its role in increasing protein kinase A activity and cyclic adenosine monophosphate levels. This study broadens our understanding of the genetic spectrum of CNC. We suggest that PRKAR1A genetic testing and counseling be recommended for patients with CNC and their families.
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Citations
Citations to this article as recorded by
- Carney complex: A clinicopathologic study on a single family from several Canadian provinces
Alexandra Lao, Julio Silva, Brian Chiu, Consolato M. Sergi
Cardiovascular Pathology.2024; 69: 107599. CrossRef
- Carney complex: A clinicopathologic study on a single family from several Canadian provinces
Case Report
- A Case of Syndrome of Resistance to Thyroid Hormone Associated with Mutation(M313T) in Thyroid Hormone Receptor Beta Gene.
- Jae Kyung Hwang, Kyung Won Kim, Tae Yong Kim, Sang Wan Kim, Young Joo Park, Do Joon Park, Seong Yeon Kim, Hong Kyu Lee, Bo Youn Cho
- J Korean Endocr Soc. 2003;18(2):206-213. Published online April 1, 2003
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- 19 Download
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Abstract
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- Syndrome of resistance to thyroid hormone(RTH) is inherited by an autosomal dominant trait, and characterized by elevated thyroid hormone levels with reduced responsiveness of the pituitary and peripheral tissues to thyroid hormone action. All of the reported RTH patients have various mutations in the ligand-binding domain coding region of the thyroid hormone receptor beta gene. A 21-year-old man visited our hospital complaining of fatigue. He had mild thyroid goiter and intermittent palpitation. Thyroid function test showed elevated total T3, free T4, and TSH levels. Levels of TSH free a-subunit and basal pituitary hormones, except prolactin, were normal. MRI of the sellar region showed no abnormal finding. TSH response to TRH stimulation was normal, and TSH values to TRH stimulation after T3 suppression revealed partial response. Sequeuce analysis of the thyroid hormone receptor beta gene confirmed a heterozygous missense mutation in exon 9; and the amino acid alteration was a substitution of a threonine(ACG) for a methionine(ATG) at codon313. Sequeuce analysis of the parents showed no mutation.We report the first case of a man with RTH caused by a de novo mutation(M313T) in TRbeta gene, confirmed by sequeuce analysis.
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