Evidence map›Paper›PMID 33228777›Full record

ArticleHereditas2020

Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss.

Jing Yu, Wei Jiang, Li Cao, Xiaoxue Na, Jiyun Yang

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Hereditas, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.5field-weighted citation impact, top 36% 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

7 citing papers in PubMed, 10 citations in OpenAlex.

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  7. Disruption ofFrontiers in cellular neuroscience · 2021
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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

5 authors at 2 institutions in 1 country.

Jing YuCollege of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan, 610071, PR China.
Wei JiangThe Key Laboratory for Human Disease Gene Study of Sichuan Province , Prenatal Diagnosis Center, Sichuan Provincial People's Hospital, the University of Electronic Science and Technology of China, The First Ring Road West Section 2 #32, Chengdu, Sichuan, 610071, PR China.
Li CaoCollege of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan, 610071, PR China.
Xiaoxue NaThe Key Laboratory for Human Disease Gene Study of Sichuan Province , Prenatal Diagnosis Center, Sichuan Provincial People's Hospital, the University of Electronic Science and Technology of China, The First Ring Road West Section 2 #32, Chengdu, Sichuan, 610071, PR China.
Jiyun YangThe Key Laboratory for Human Disease Gene Study of Sichuan Province , Prenatal Diagnosis Center, Sichuan Provincial People's Hospital, the University of Electronic Science and Technology of China, The First Ring Road West Section 2 #32, Chengdu, Sichuan, 610071, PR China. yangjiyun@yeah.net.ORCID http://orcid.org/0000-0001-9670-1028
University of Electronic Science and Technology of China · CNChengdu University of Traditional Chinese Medicine · CN

Funding

Chengdu Science and Technology Bureau (CN) 2015-HM02-00094-SFTransfer of Scientific and Technological Achievements of Sichuan Province 15010118
6 · The paper itself

Abstract

Mutations in HARS2 are one of the genetic causes of Perrault syndrome, characterized by sensorineural hearing loss (SNHL) and ovarian dysfunction. Here, we identified two novel putative pathogenic variants of HARS2 in a Chinese family with sensorineural hearing loss including two affected male siblings, c.349G > A (p.Asp117Asn) and c.908 T > C (p.Leu303Pro), through targeted next-generation sequencing methods. The two affected siblings (13 and 11 years old) presented with early-onset, rapidly progressive SNHL. The affected siblings did not have any inner ear malformations or delays in gross motor development. Combined with preexisting clinical reports, Perrault syndrome may be latent in some families with non-syndromic deafness associated with HARS2 mutations. The definitive diagnosis of Perrault syndrome based on clinical features alone is a challenge in sporadic males, and preadolescent females with no signs of POI. Our findings further expanded the existing spectrum of HARS2 variants and Perrault syndrome phenotypes, which will assist in molecular diagnosis and genetic counselling of patients with HARS2 mutations.

Indexed as

AllelesMutationPhenotypeAdolescentAmino Acid SequenceAmino Acid SubstitutionAmino Acyl-tRNA SynthetasesChildChinaComputational BiologyDNA Mutational AnalysisGenetic Association StudiesGenetic Predisposition to DiseaseHearing Loss, SensorineuralHigh-Throughput Nucleotide SequencingHumansAmino Acyl-tRNA SynthetasesHARS2 protein, humanReactive Oxygen SpeciesHARS2Next-generation sequencingPerrault syndrome

Identifiers

PMID33228777
PMCPMC7684720
OpenAlexW3106550138

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

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.