Fig. 1.

Results of genetic analyses in three cases . a. Deletion mutation (arrow) in exon 11 of the CLCN5 gene [c.1444delG] and a nonsense mutation at nucleotide 1509 [p.L503*] in Case 1. b. Relative DNA contents of exons 3–4 of human OCRL1 gene and schematic representation of exonic location of the identified deletion mutations (c.120-238delG…A) and nonsense mutation at nucleotide 171 in exon 5 in the mutant OCRL1 gene [p.E57*] in Case 2. c. Missense mutation in exon 2 of HNF4A gene (arrow) [c.253C > T; p.R85W] in Case 3