Clinical <i>SMN1</i> and <i>SMN2</i> Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.

ABSTRACT:

Purpose

Therapeutic advances in the treatment of spinal muscular atrophy (SMA) prompt the need for robust and efficient molecular diagnosis of this disease. Approximately five percent of SMA cases are attributable to one copy of SMN1 with a hypomorphic or inactivating variant in trans with a deleted or converted allele. These intragenic variants are challenging to definitively localize to SMN1 due to its sequence homology with the SMN2 gene. To enhance the clinical sensitivity of SMA diagnostic testing, we present an optimized gene-specific sequencing assay to localize variants to either SMN1 or SMN2.

Methods

SMN1 and SMN2 genes are independently amplified by long-range allele-specific PCR. Long-range products are used

SUBMITTER: Miller CR 

PROVIDER: S-EPMC11919053 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature