Evidence map›Paper›PMID 32150337›Full record

ArticleAmerican journal of medical genetics. Part A2020

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.

Elizabeth A Burke, Kyle E Reichard, Lynne A Wolfe, Brian P Brooks, John J DiGiovanna, Donald W Hadley, Tanya J Lehky, Andrea L Gropman, Cynthia J Tifft, William A Gahl and 2 more

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

Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.4field-weighted citation impact, top 19% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. [Incomplete penetrance of SOX10 gene mutation in a family with Waardenburg syndrome type Ⅳ].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2026
    Article
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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

12 authors at 5 institutions in 1 country.

Elizabeth A BurkeNIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.ORCID 0000-0002-0801-666X
Kyle E ReichardNIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
Lynne A WolfeNIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
Brian P BrooksOphthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, Maryland, USA.
John J DiGiovannaLaboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA.
Donald W HadleyOffice of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
Tanya J LehkyElectromyography Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
Andrea L GropmanHuman Development Section, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
Cynthia J TifftNIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
William A GahlNIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
Camilo ToroNIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
David AdamsNIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
National Human Genome Research Institute · USChildren's National · USNational Cancer Institute · USNational Eye Institute · USNational Institute of Neurological Disorders and Stroke · US

Funding

Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6M
Intramural NIH HHS Z99 HG999999
6 · The paper itself

Abstract

Waardenburg syndrome (WS) is a group of genetic disorders associated with varying components of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and eyes. There exist four different WS subtypes, each defined by the absence or presence of additional features. One of the genes associated with WS is SOX10, a key transcription factor for the development of neural crest-derived lineages. Here we report a 12-year-old boy with a novel de novo SOX10 frameshift mutation and unique combination of clinical features including primary peripheral demyelinating neuropathy, hearing loss and visual impairment but absence of Hirschsprung disease and the typical pigmentary changes of hair or skin. This expands the spectrum of currently recognized phenotypes associated with WS and illustrates the phenotypic heterogeneity of SOX10-associated WS.

Indexed as

Genetic Predisposition to DiseaseAutoimmune Diseases of the Nervous SystemChildDemyelinating DiseasesFrameshift MutationHirschsprung DiseaseHumansMalePedigreePhenotypeSOXE Transcription FactorsWaardenburg SyndromeSOX10 protein, humanSOXE Transcription FactorsCochlear implantSOX10Waardenburg syndrome

Identifiers

PMID32150337
PMCPMC7167353
OpenAlexW3012413900

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.