they found that the foetuses had mutations in both copies of cenpf. they subsequently analysed a cohort of 1,000 individuals with microcephaly and found that one of them, a girl, had mutations in both of her copies of cenpf. her learning delay was mild-to-moderate, and she did not have any other issues with her bodily systems. this confirmed for the first time that mutations in cenpf are pathogenic. in 2016, filges et al. followed up with strømme's original two siblings and found using whole exome sequencing that they both had mutations in both of their copies of cenpf, establishing mutations in cenpf as the cause of strømme syndrome. notable cases in may 2017, ruby ardolf (born november 11, 2004), from minnesota, united states and diagnosed with strømme syndrome, appeared in an instagram video answering questions from her mother angela which went viral, gaining over 500,000 views in a week. angela manages a website, online store and youtube channel for her daughter, with over 170,000 subscribers as of july 2020.