Evidence map›Paper›PMID 33045145›Full record

ArticleMolecular genetics & genomic medicine2020

A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.

Shuzhi Yang, Cuicui Wang, Chengyong Zhou, DongYang Kang, Xin Zhang, Huijun Yuan

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

Article in Molecular genetics & genomic medicine, 2020. 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
0.1field-weighted citation impact, top 55% of its field
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
4 · The record

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5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Shuzhi YangDepartment of Otolaryngology, The 4th Medical Center, Chinese PLA General Hospital, Beijing, China.ORCID 0000-0003-0663-9211
Cuicui WangCenter for Medical Genetics, Southwest Hospital, Army Medical University, Chongqing, China.
Chengyong ZhouDepartment of Otolaryngology, The 4th Medical Center, Chinese PLA General Hospital, Beijing, China.
DongYang KangInstitute Of Otolaryngology, Chinese PLA General Hospital, Beijing, China.
Xin ZhangInstitute Of Otolaryngology, Chinese PLA General Hospital, Beijing, China.
Huijun YuanCenter for Medical Genetics, Southwest Hospital, Army Medical University, Chongqing, China.
Chinese PLA General Hospital · CNArmy Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundWaardenburg syndrome (WS) is a highly clinically and genetically heterogeneous disease. The core disease phenotypes of WS are sensorineuronal hearing loss and pigmentary disturbance, which are usually caused by the absence of neural crest cell-derived melanocytes. At present, four subtypes of WS have been defined, which are caused by seven genes. Waardenburg syndrome type 2 (WS2) is one of the most common forms. Two genes, MITF and SOX10, have been found to be responsible for majority of WS2.

methodsIn this study, we performed a clinical longitudinal follow-up and mutation screening for a Chinese family with Waardenburg syndrome type II.

resultsA diversity of clinical manifestations was observed in this WS2 family. In addition to the congenital hearing loss of most affected family members, progressive hearing loss was also found in some WS2 patients. A nonsense mutation of c.328C>T (p.R110X) in MITF was identified in all affected family members. This mutation results in a truncated MITF protein, which is considered to be a disease-causing mutation.

conclusionThese findings offer a better understanding of the spectrum of MITF mutations and highlight the necessity of continuous hearing assessment in WS patients.

Indexed as

AdolescentAdultChildCodon, NonsenseFemaleHearingHumansMaleMicrophthalmia-Associated Transcription FactorMiddle AgedPedigreePhenotypeWaardenburg SyndromeCodon, NonsenseMicrophthalmia-Associated Transcription FactorMITF protein, humangene mutationhearing lossMITFWaardenburg syndrome

Identifiers

PMID33045145
PMCPMC7767564
OpenAlexW3092487040

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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.