Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.

ABSTRACT: Amelogenesis is the process of tooth enamel formation, and genetic variants disrupting it cause the Mendelian inherited disorder amelogenesis imperfecta (AI). AI patients have weak, discoloured or brittle enamel, caused by reduced enamel quantity or mineralisation. AI can occur in isolation or, less commonly, as part of a syndrome. Pathogenic variants in at least 38 genes have been shown to cause AI. Current genetic screening studies typically use exome sequencing, but this is expensive and involves complex data analysis workflows. Target enrichment using smMIPs (single molecule molecular inversion probes) provides a flexible alternative, allowing the creation of a disease-specific reagent for low cost, robust, high-throughput screening. Here, we describe the development of an smMIP reagen

SUBMITTER: Hany U 

PROVIDER: S-EPMC12308062 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature