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.
Camerun WashingtonElliot S StolermanJessica A Cooley-ColemanJulie R JonesXiangwen Chen-DeutschPublished in: Clinical case reports (2023)
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.