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Identification of a mutation in prominin 1 (PROM1) gene. Sanger sequencing of case#1 confirmed that the affected sibling (case#1, II: 2) was homozygous for c.1445dupT (p.F482fs) whereas the parents (I: 1 and I:2) and the older brother (II: 1) of the proband were unaffected heterozygous carriers of c.1445dupT (p.F482fs), showing complete co-segregation of the mutation with the disease phenotype in this family. The c.1445dupT mutation was also observed in case#2.
