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Case Reports
. 2021 May;9(5):e1657.
doi: 10.1002/mgg3.1657. Epub 2021 Apr 3.

Whole-exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities

Meirong Yang  1 , Xiaosheng Lu  2 , Ye Zhang  1 , Changchen Wang  1 , Zhen Cai  3 , Zhengyong Li  4 , Bo Pan  1 , Haiyue Jiang  1
Affiliations
Case Reports

Whole-exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities

Meirong Yang et al. Mol Genet Genomic Med. 2021 May.

Abstract

Background: Microtia is a congenital malformation of the external ear and may occur as an isolated deformity or as part of a syndrome. Our previous study found a high correlation between microtia and thoracic deformities, thus, we propose that external ear and thorax development may be regulated by certain genes in common.

Methods: We performed exome sequencing on 10 families of sporadic microtia with thoracic abnormalities. We identified mutated genes under different models of inheritance, and checked them through Mouse Genome Informatics and association analysis.

Results: We identified 45 rare mutations, including 9 de novo mutations, 20 heterozygous mutations, 3 homozygous mutations, and 13 hemizygous mutations, of which 2 are likely to be causative. They are de novo missense variant in PHF5A and compound heterozygous mutations in CYP26B1, of which CYP26B1 mutation is highly likely pathogenic.

Conclusion: The results indicate that certain genes may affect both external ear and thorax development, and demonstrate the benefits of whole-exome sequencing in identifying candidate genes of microtia. This study provides a new way for genetic exploration in microtia.

Keywords: CYP26B1; microtia; mutation; thoracic deformities; whole-exome sequencing.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Protein coding sequences from different species demonstrated that the site 159 in CYP26B1 was highly conserved
FIGURE 2
FIGURE 2
Protein coding sequences from different species demonstrated that the site 124 in CYP26B1 was highly conserved
See this image and copyright information in PMC

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