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Article

Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus.

Human molecular genetics - 17 May 2021

Shinde Vishal, Sobreira Nara, Wohler Elizabeth S, Maiti George, Hu Nan, Silvestri Giuliana, George Sonia, Jackson Jonathan, Chakravarti Aravinda, Willoughby Colin E, Chakravarti Shukti

Abstract excerpt

Keratoconus is a common corneal defect with a complex genetic basis. By whole exome sequencing of affected members from 11 multiplex families of European ancestry, we identified 23 rare, heterozygous, potentially pathogenic variants in 8 genes. These include nonsynonymous single amino acid substitutions in HSPG2, EML6 and CENPF in two families each, and in NBEAL2, LRP1B, PIK3CG and MRGPRD in three families each;...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33729517
DOI: 10.1093/hmg/ddab075
PMCID: PMC8867208

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