Fig. 3
From: A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family
Genetic analysis of deafness family. a Linkage analysis detects four loci with LOD score around 1.5, red arrow points to the locus of OSBPL2. b OSBPL2 is located on chromosome 20q13.33 (red bar). c The OSBPL2 deletion is detected in exon 3 (red box). d Sequencing chromatograms of OSBPL2 shows a heterozygous frameshift deletion c.158_159delAA (deleted nucleotides are boxed) in DNA from affected patients (right) as compared to that from control (left). e The c.158_159delAA (p.Gln53Arg fs*100) mutation of OSBPL2 occurs before the oxysterol binding domain. Other published mutations on OSBPL2 were also shown