Evidence map›Paper›PMID 33446255›Full record

ArticleAllergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology2021

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy.

Bhavi P Modi, Kate L Del Bel, Susan Lin, Mehul Sharma, Phillip A Richmond, Clara D M van Karnebeek, Edmond S Chan, Vishal Avinashi, Wingfield E Rehmus, Catherine M Biggs and 2 more

Abstract readLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. A novel variation inFrontiers in pediatrics · 2025
    Article
  2. A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia.Clinical, cosmetic and investigational dermatology · 2024
    Article
  3. Article
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.

Bhavi P ModiCentre for Molecular Medicine and Therapeutics, Dept. of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
Kate L Del BelBC Children's Hospital, University of British Columbia, 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.
Susan LinBC Children's Hospital, University of British Columbia, 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.
Mehul SharmaBC Children's Hospital, University of British Columbia, 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.
Phillip A RichmondCentre for Molecular Medicine and Therapeutics, Dept. of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
Clara D M van KarnebeekCentre for Molecular Medicine and Therapeutics, Dept. of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
Edmond S ChanBC Children's Hospital, University of British Columbia, 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.
Vishal AvinashiBC Children's Hospital, University of British Columbia, 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.
Wingfield E RehmusBC Children's Hospital, University of British Columbia, 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.
Catherine M BiggsBC Children's Hospital, University of British Columbia, 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada.
Wyeth W WassermanCentre for Molecular Medicine and Therapeutics, Dept. of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
Stuart E TurveyBC Children's Hospital, University of British Columbia, 950 W 28th Ave, Vancouver, BC, V5Z 4H4, Canada. sturvey@cw.bc.ca.ORCID http://orcid.org/0000-0003-1599-1065

Funding

Genome British Columbia SIP007
6 · The paper itself

Abstract

X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of ectodermal dysplasia. Clinical and genetic heterogeneity between different ectodermal dysplasia types and evidence of incomplete penetrance and variable expressivity increase the potential for misdiagnosis. We describe a family with X-linked hypohidrotic ectodermal dysplasia (XLHED) presenting with variable expressivity of symptoms between affected siblings. In addition to the classical signs of hypohidrosis, hypotrichosis and hypodontia, the index patient-a 5 year old boy, also presented with a severe atopy phenotype that was not observed in the other two affected brothers. Exome sequencing in the index and the mother identified a pathogenic nonsense variant in EDA (NM_001399.4: c.766 C>T; p. Gln256Ter). This study highlights how exome sequencing was crucial in establishing a precise molecular diagnosis of XLHED by enabling us to rule out other differential diagnoses including NEMO deficiency syndrome, that was initially presented as a clinical diagnosis to the family.

Indexed as

AtopyEDAExome sequencingX-linked hypohidrotic ectodermal dysplasia

Identifiers

PMID33446255
PMCPMC7809757

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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.