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- Title
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.
- Authors
Islam, Farrah; Htun, Stephanie; Lai, Li‐Wen; Krall, Max; Poranki, Menitha; Martin, Pierre‐Marie; Sobreira, Nara; Wohler, Elizabeth S.; Yu, Jingwei; Moore, Anthony T.; Slavotinek, Anne M.
- Abstract
Next‐generation sequencing strategies have resulted in mutation detection rates of 21% to 61% in small cohorts of patients with microphthalmia, anophthalmia and coloboma (MAC), but despite progress in identifying novel causative genes, many patients remain without a genetic diagnosis. We studied a cohort of 19 patients with MAC who were ascertained from a population with high rates of consanguinity. Using single nucleotide polymorphism (SNP) arrays and whole exome sequencing (WES), we identified one pathogenic variant in TENM3 in a patient with cataracts in addition to MAC. We also detected novel variants of unknown significance in genes that have previously been associated with MAC, including KIF26B, MICU1 and CDON, and identified variants in candidate genes for MAC from the Wnt signaling pathway, comprising LRP6, WNT2B and IQGAP1, but our findings do not prove causality. Plausible variants were not found for many of the cases, indicating that our current understanding of the pathogenesis of MAC, a highly heterogeneous group of ocular defects, remains incomplete.
- Subjects
EXOMES; SINGLE nucleotide polymorphisms; HUMAN chromosome abnormality diagnosis; WNT signal transduction; PATHOLOGY; NUCLEOTIDE sequencing
- Publication
Clinical Genetics, 2020, Vol 98, Issue 5, p499
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13830