Evidence map›Paper›PMID 38419387›Full record

ArticleMolecular genetics & genomic medicine2024

A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II.

Xiuli Ma, Liping Zhao, Li Li, Xia Li, Chaohong Ding, Jing Ma

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

Article in Molecular genetics & genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
1.1field-weighted citation impact, top 22% of its field
1 · What the graph read from it

What it found

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2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 2 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Xiuli MaDepartment of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.
Liping ZhaoDepartment of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.
Li LiYunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.
Xia LiDepartment of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.
Chaohong DingYunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.
Jing MaDepartment of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.
Kunming Children's Hospital · CN

Funding

Digitalization, Development and Application of Biotic Resource 202002AA100007Haibo Wang Expert Workstation in Yunnan Province 202105AF150056National Natural Science Foundation of China 82060192Reserve Talents for Young and Middle-aged Academic and Technical Leaders in Yunnan Province 2019HB102Yunnan Province Clinical Research Center for Children's Health and Disease N08901146
6 · The paper itself

Abstract

objectiveTo explore the molecular etiology of Waardenburg syndrome type II (WS2) in a family from Yunnan province, China.

methodsA total of 406 genes related to hereditary hearing loss were sequenced using next-generation sequencing. DNA samples were isolated from the peripheral blood DNA of probands. Those pathogenic mutations detected by next-generation sequencing in probands and their parents were validated by Sanger sequencing. The conservatism of variation sites in genes was also analyzed. The protein expression was detected by flow cytometry.

resultsA heterozygous mutation c.178delG (p.D60fs*49) in the SOX10 gene was identified in the proband, which is a frameshift mutation and may cause protein loss of function and considered to be a pathogenic mutation. This was determined to be a de novo mutation because her family were demonstrated to be wild-type and symptom free. SOX10, FGFR3, SOX2, and PAX3 protein levels were reduced as determined by flow cytometry.

conclusionA novel frameshift mutation in SOX10 gene was identified in this study, which may be the cause of WS2 in proband. In addition, FGFR3, SOX2, and PAX3 might also participate in promoting the progression of WS2.

Indexed as

Frameshift MutationWaardenburg SyndromeChinaDNAFemaleHumansPedigreeSOXE Transcription FactorsDNASOX10 protein, humanSOXE Transcription Factorshearing lossSOX10 geneWaardenburg syndrome

Identifiers

PMID38419387
PMCPMC10958176
OpenAlexW4392288698

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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.