Dataset related to article "In-depth genetic and molecular characterization of Diaphanous Related Formin 2 (DIAPH2) and its role in the inner ear"
Creators
- 1. IRCCS Humanitas Research Hospital, via Manzoni 56, 20072 Rozzano (Mi) - Italy
- 2. Experimental Therapeutics Program, IFOM-FIRC Institute of Molecular Oncology Foundation, Milan, Italy
- 3. Wolfson Centre for Age-Related Diseases, King's College London, UK
- 4. Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy
- 5. Casa di Cura Igea, Milan, Italy
- 6. Dipartimento di Scienze Cliniche e di Comunità, Università degli Studi di Milano, Milan, Italy
- 7. Humanitas University, Department of Biomedical Sciences, Pieve Emanuele, Italy AND IRCCS Humanitas Research Hospital, via Manzoni 56, 20072 Rozzano (Mi) - Italy
Description
This record contains data (Table S1 to S4, Figure S1 to S12, File S1) related to article “In-depth genetic and molecular characterization of Diaphanous Related Formin 2 (DIAPH2) and its role in the inner ear” .
Specifically, the record contains the following supplementary information to the article:
Table S1. Coding sequence coverage of known autosomal recessive and X-linked NSHL-causing genes in exome data.
Table S2. Prioritized variants shared between affected siblings III1 and III3.
Table S3. CNVs shared between affected siblings III1 and III3.
Table S4. Primers used for genetic screening of candidate genes/variants.
Figure S1. Analysis of auditory brainstem evoked potentials in proband III3.
Figure S2. Expression of mouse Diaph2 mRNA in P4 organ of Corti by RT-PCR.
Figure S3. Diaph2 expression in E14.5 and E16.5 wild-type mouse cochlea.
Figure S4. Evaluation of Diaph2 expression in whole-mount mouse cochleas.
Figure S5. Diaph2 expression in P7 and P14 wild-type mouse cochlea.
Figure S6. In-silico analysis of the impact of c.868A>G variant on DIAPH2 pre-mRNA splicing.
Figure S7. In-vitro analysis of the impact of c.868A>G variant on DIAPH2 pre-mRNA splicing.
Figure S8. In-vitro characterization of the effect of the c.868A>G variation on splicing using a DIAPH2minigene spanning exons 6 to 9.
Figure S9. Analysis of DIAPH2 exon 8 splicing in blood from NSHL3 family subjects.
Figure S10. In-vivo analysis of Diaph2 exon 8 splicing in the mouse cochlea.
Figure S11. Pathogenicity prediction of the p.I290V missense variant with 8 commonly used software.
Figure S12. DIAPH2 immunolocalization studies in basal conditions.
File S1. Supplementary Methods
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