A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients.

Monica CattaneoLucia La SalaMaurizio RondinelliEdoardo ErrichielloOrsetta ZuffardiAnnibale Alessandro PucaStefano GenoveseAntonio Ceriello

Published in: BMC medical genetics (2017)

We concluded that the c.103 + 1G > A mutation resulted in the loss of functional CISD2 protein in the two Italian WFS2 patients.

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