Evidence map›Paper›PMID 36193716›Full record

ArticleEndocrinology and metabolism (Seoul, Korea)2022

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

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PubMed Full text at PMC Publisher
In one paragraph

Article in Endocrinology and metabolism (Seoul, Korea), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.2field-weighted citation impact, top 47% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 1 institution in 1 country.

Boram KimDepartment of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Han Na JangDepartment of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Kyung Shil ChaeDepartment of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Ho Seop ShinDepartment of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Yong Hwy KimDepartment of Neurosurgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Su Jin KimDepartment of Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Moon-Woo SeongDepartment of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Jung Hee KimDepartment of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Seoul National University Hospital · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Carney ComplexAdultCyclic AMP-Dependent Protein Kinase RIalpha SubunitCyclic AMP-Dependent Protein KinasesFemaleHumansMutationPhenotypeYoung AdultCyclic AMP-Dependent Protein Kinase RIalpha SubunitCyclic AMP-Dependent Protein KinasesPRKAR1A protein, humanCarney complexGenetic counselingMissense mutationPRKAR1AVariant

Identifiers

PMID36193716
PMCPMC9633213
OpenAlexW4301392851

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.