Dataset Information

Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population.

ABSTRACT: Aims: To study the genetic spectra of corneal dystrophies (CDs) in Han Chinese patients using next-generation sequencing (NGS). Methods: NGS-based targeted region sequencing was performed to evaluate 71 CD patients of Han Chinese ethnicity. A custom-made capture panel was designed to capture all coding exons and untranslated regions plus 25 bp of intronic flanking sequences of 801 candidate genes for eye diseases. The Genome Analysis Tool Kit Best Practices pipeline and an intensive computational prediction pipeline were applied for the analysis of pathogenic variants. Results: We achieved a mutation detection rate of 59.2% by NGS. Eighteen known mutations in CD-related genes were found in 42 out of 71 patients, and these cases showed a genotype-phenotype correlation consistent with previous reports. Nine novel variants that were likely pathogenic were found in various genes, including CHST6, TGFBI, SLC4A11, AGBL1, and COL17A1. These variants were all predicted to be protein-damaging by an intensive computational analysis. Conclusions: This study expands the spectra of genetic mutations associated with various types of CDs in the Chinese population and highlights the clinical utility of targeted NGS for genetically heterogeneous CD.

SUBMITTER: Zhang J

PROVIDER: S-EPMC6726741 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population.

Zhang Jing J Wu Dan D Li Yue Y Fan Yidan Y Chen Huiyu H Hong Jiaxu J Xu Jianjiang J

Frontiers in genetics 20190829

<b>Aims:</b> To study the genetic spectra of corneal dystrophies (CDs) in Han Chinese patients using next-generation sequencing (NGS). <b>Methods:</b> NGS-based targeted region sequencing was performed to evaluate 71 CD patients of Han Chinese ethnicity. A custom-made capture panel was designed to capture all coding exons and untranslated regions plus 25 bp of intronic flanking sequences of 801 candidate genes for eye diseases. The Genome Analysis Tool Kit Best Practices pipeline and an intensiv ...[more]

PMID: 31555324

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Project description:The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. Clinically, the corneal dystrophies can be divided into three groups based on the sole or predominant anatomical location of the abnormalities. Some affect primarily the corneal epithelium and its basement membrane or Bowman layer and the superficial corneal stroma (anterior corneal dystrophies), the corneal stroma (stromal corneal dystrophies), or Descemet membrane and the corneal endothelium (posterior corneal dystrophies). Most corneal dystrophies have no systemic manifestations and present with variable shaped corneal opacities in a clear or cloudy cornea and they affect visual acuity to different degrees. Corneal dystrophies may have a simple autosomal dominant, autosomal recessive or X-linked recessive Mendelian mode of inheritance. Different corneal dystrophies are caused by mutations in the CHST6, KRT3, KRT12, PIP5K3, SLC4A11, TACSTD2, TGFBI, and UBIAD1 genes. Knowledge about the responsible genetic mutations responsible for these disorders has led to a better understanding of their basic defect and to molecular tests for their precise diagnosis. Genes for other corneal dystrophies have been mapped to specific chromosomal loci, but have not yet been identified. As clinical manifestations widely vary with the different entities, corneal dystrophies should be suspected when corneal transparency is lost or corneal opacities occur spontaneously, particularly in both corneas, and especially in the presence of a positive family history or in the offspring of consanguineous parents. Main differential diagnoses include various causes of monoclonal gammopathy, lecithin-cholesterol-acyltransferase deficiency, Fabry disease, cystinosis, tyrosine transaminase deficiency, systemic lysosomal storage diseases (mucopolysaccharidoses, lipidoses, mucolipidoses), and several skin diseases (X-linked ichthyosis, keratosis follicularis spinolosa decalvans). The management of the corneal dystrophies varies with the specific disease. Some are treated medically or with methods that excise or ablate the abnormal corneal tissue, such as deep lamellar endothelial keratoplasty (DLEK) and phototherapeutic keratectomy (PTK). Other less debilitating or asymptomatic dystrophies do not warrant treatment. The prognosis varies from minimal effect on the vision to corneal blindness, with marked phenotypic variability.

Dataset Information

Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population.

Publications

Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population.

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