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Search for a genetic cause in children with unilateral isolated microtia and congenital aural atresia

  • Otology
  • Published:
European Archives of Oto-Rhino-Laryngology Aims and scope Submit manuscript

Abstract

Purpose

Microtia describes a spectrum of auricular malformations ranging from mild dysplasia to anotia. A vast majority of microtia patients demonstrate congenital aural atresia (CAA). Isolated microtia has a right ear predominance (58–61%) and is more common in the male sex. Isolated microtia is a multifactorial condition involving genetic and environmental causes. The aim of this study is to describe the phenotype of children with unilateral isolated microtia and CAA, and to search for a common genetic cause trough DNA analysis.

Methods

Phenotyping included a complete clinical examination. Description on the degree of auricular malformation (Weerda classification—Weerda 1988), assessment for hemifacial microsomia and age-appropriate audiometric testing were documented. Computerized tomography of the temporal bone with 3-D rendering provided a histopathological classification (HEAR classification—Declau et al. 1999). Genetic testing was carried out by single nucleotide polymorphism (SNP) microarray.

Results

Complete data are available for 44 children (50% was younger than 33 days at presentation; 59.1% boys; 72.7% right ear). Type III microtia was present in 28 patients. Type 2b CAA existed in 32 patients. All patients had a normal hearing at the non-affected side. Genome wide deletion duplication analysis using microarray did not reveal any pathological copy number variant (CNV) that could explain the phenotype.

Conclusions

Type III microtia (peanut-shell type) in combination with a type 2b CAA was the most common phenotype, present in 23 of 44 (52.3%) patients with isolated unilateral microtia. No abnormalities could be found by copy number variant (CNV) analysis. Whole exome sequencing in a larger sample with a similar phenotype may represent a future diagnostic approach.

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Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

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Authors and Affiliations

  1. Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium

    J. Mortier

  2. Department of Medical Genetics, Antwerp University Hospital, Edegem, Belgium

    J. van den Ende & W. Wuyts

  3. Department of Medical Genetics, University of Antwerp, Antwerp, Belgium

    J. van den Ende, W. Wuyts & G. Van Camp

  4. Faculty of Medicine and Translational Neurosciences, University of Antwerp, Antwerp, Belgium

    F. Declau, O. Vanderveken & An Boudewyns

  5. Department of Maxillofacial Surgery, Antwerp University Hospital, Edegem, Belgium

    H. Vercruysse Jr

  6. Department of Otorhinolaryngology, Head and Neck Surgery, Antwerp University Hospital, University of Antwerp, Drie Eikenstraat 655, 2650, Edegem, Belgium

    O. Vanderveken & An Boudewyns

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  1. J. Mortier
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  2. J. van den Ende
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Mortier, J., van den Ende, J., Declau, F. et al. Search for a genetic cause in children with unilateral isolated microtia and congenital aural atresia. Eur Arch Otorhinolaryngol 280, 623–631 (2023). https://doi.org/10.1007/s00405-022-07522-4

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  • DOI: https://doi.org/10.1007/s00405-022-07522-4

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