Figure 1. Pedigree of a family with two sisters with USH2. The patients carried in the USH2A gene the single sequence variant c.4144T>C (p.Trp1382Arg), which was first supposed to be present in homozygosis. Because this variant was detected in the father but not in the mother of the patients, a deletion was then suspected. The evaluation of the patients with a new MLPA kit for the gene USH2A allowed identification in the mother and her two daughters of a heterozygous deletion of exons 17–19.