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Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy Modi, Bhavi P.; Del Bel, Kate L.; Lin, Susan; Sharma, Mehul; Richmond, Phillip A.; van Karnebeek, Clara D. M.; Chan, Edmond S.; Avinashi, Vishal; Rehmus, Wingfield E.; Biggs, Catherine M.; Wasserman, Wyeth W.; Turvey, Stuart E.

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.

Item Metadata

Title
Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy
Creator
Modi, Bhavi P.; Del Bel, Kate L.; Lin, Susan; Sharma, Mehul; Richmond, Phillip A.; van Karnebeek, Clara D. M.; Chan, Edmond S.; Avinashi, Vishal; Rehmus, Wingfield E.; Biggs, Catherine M.; Wasserman, Wyeth W.; Turvey, Stuart E.
Contributor
University of British Columbia. Centre for Molecular Medicine and Therapeutics; Children's Hospital (Vancouver, B.C.). Research Institute; Children's Hospital (Vancouver, B.C.)
Publisher
BioMed Central
Date Issued
2021-01-14
Description
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.
Subject
X-linked hypohidrotic ectodermal dysplasia; EDA; Atopy; Exome sequencing
Genre
Article
Type
Text
Language
eng
Date Available
2021-01-14
Provider
Vancouver : University of British Columbia Library
Rights
Attribution 4.0 International (CC BY 4.0)
DOI
10.14288/1.0395604
URI
http://hdl.handle.net/2429/77097
Affiliation
Medicine, Faculty of; Other UBC; Non UBC; Dermatology and Skin Science, Department of; Medical Genetics, Department of; Medicine, Department of; Pediatrics, Department of
Citation
Allergy, Asthma & Clinical Immunology. 2021 Jan 14;17(1):9
Publisher DOI
10.1186/s13223-021-00510-z
Peer Review Status
Reviewed
Scholarly Level
Faculty
Copyright Holder
The Author(s)
Rights URI
http://creativecommons.org/licenses/by/4.0/
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Attribution 4.0 International (CC BY 4.0)