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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

Figure 3

Genetics of the German DFNA67 family. A Graphical view of the LOD score calculation of genome-wide SNP mapping. A 3.4 Mb region on chromosome 12 and an 8.4 Mb region on chromosome 20 showed potential linkage with the phenotype. B Ideogram of chromosome 20 with the position of OSBPL2 indicated (red bar). Schematic representation of the mapped sequencing reads (forward strand) visualized with the Integrative Genomics Viewer (IGV) for patient IV:10. The c.141_142delTG (p.Arg50Alafs*103) mutation in OSBPL2 was present in half of the reads covering this region of the gene. C Electropherogram of a heterozygous carrier of the OSBPL2 mutation in exon 3 (deleted nucleotides are boxed). The localization of the mutation is indicated in a scheme of the OSBPL2 gene. D RT-PCR demonstrates Osbpl2 expression at the transcriptional level in mouse (lane 2) and rat (lane3) cochlea. Lane 1, no cDNA as negative control.

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