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

• 发表时间: Jan 2021 14
• 来源期刊: Allergy Asthma Clin Immunol
• DOI: 10.1186/s13223-021-00510-z
• PMID: 33446255
• 文章类型: Letter
• 中科院分区: Q3
• 方向: 医学
• 作者列表: Modi BP,Del Bel KL,Lin S,Sharma M,Richmond PA,van Karnebeek CDM,Chan ES,Avinashi V,Rehmus WE,Biggs CM,Wasserman WW,Turvey SE

关键词: Atopy; EDA; Exome sequencing; X-linked hypohidrotic ectodermal dysplasia

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.