RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy

Abstract

Abstract We see that a multiple methods approach to diagnosis remains necessary in the era of whole genome sequencing. We also observe that reproductive risk genetic counseling can be a motivating factor for further testing along the diagnostic odyssey.

Keywords

• dual diagnosis
• genome sequencing
• incontinentia pigmenti
• LAMA2
• muscular dystrophy
• RNA analysis