Fig. 5From: Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram SyndromeSanger sequencing results of CISD2 in patient 1 and his parents. Patient 1 has a novel frameshift mutation at codon 91 (p.Leu91fs) in exon 2 of CISD2 caused by the homozygous deletion mutations (c.272_273del). The red box presents the homozygous mutation in patient 1 and the heterozygous mutation in his parentsBack to article page