Supplementary Figures:
Figure S1 Audiograms of three familiar patients selected for WES (Red indicates the right ear, and
blue indicates the left ear. Symbols ‘‘O’’ and “×’’ denote air conduction pure-tone thresholds at
different frequencies in the right and left ear. dB, decibels; Hz, Hertz).
Figure S2 The distribution of per-base sequencing depth in target regions for each sample. Y-axis
indicated the percentage of total target region under a given sequencing depth.
Figure S3 Cumulative depth distribution in target regions for each sample. X-axis denotes
sequencing depth, and Y-axis indicated the fraction of bases that achieves at or above a given
sequencing depth.
Figure S4 The BLAST results of wild and mutated types of OSBPL2
Figure S5 The BLAST results of OSBPL2 (1) and Osh3 holo-form protein (PDB ID: 4INQ) (2).
The red frame-labed amino acids were the conserved OSBP-fingerprint motif.
Figure S6 The Ramachandran plot and statistical results of predicted OSBPL2 structure.
Figure S7 Expression of the Osbpl2 gene in mouse tissues. RT-PCR analyses of Osbpl2 expression
in the mouse heart, liver, spleen, lung, kidney, muscle, brain and cochlea with 468 bp products.
β-actin was used as an internal control for cDNA quantification.
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Figure S1
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Figure S2
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Figure S3
ATG
Codon 51-53: CCC TCT CAA
MNGEEEFFDAVTGFDSDNSSGEFSEANQKVTGMIDLDTSKNNRIGKTGERPSQENGIQKHRTSLPAPMFSRSDFSVWTILKKCVGLELSKITMPIAFNEPLSF
LQRITEYMEHVYLIHRASCQPQPLERMQSVAAFAVSAVASQWERTGKPFNPLLGETYELIREDLGFRFISEQVSHHPPISAFHSEGLNHDFLFHGSIYPKLKF
WGKSVEAEPRGTITLELLKHNEAYTWTNPTCCVHNVIIGKLWIEQYGTVEILNHRTGHKCVLHFKPCGLFGKELHKVEGHIQDKNKKKLFMIYGKWTECL
WGIDPVSYESFKKQERRGDHLRKAKLDEDSGKADSDVADDVPVAQETVQVIPGSKLLWRINTRPPNSAQMYNFTSFTVSLNELETGMEKTLPPTDCRLRP
DIRGMENGNMDLASQEKERLEEKQREARRERAKEEAEWQTRWFYPGNNPYTGTPDWLYAGDYFERNFSDCPDIY*
(A) Wild Type OSBPL2 Protein (480 amino acid residues)
(CT and Q indicated the position of c.153_154delCT, p. Gln53Arg fs*100; L indicated the position of c.583C>A, p.Leu195Met)
ATG
Codon 51-53: CCC TCA AGA
MNGEEEFFDAVTGFDSDNSSGEFSEANQKVTGMIDLDTSKNNRIGKTGERPSRERNSETQDIAAGSHVQQKRLQRVDHPEEVCWPGAVQDHDANRLQRAS
ELLAADHGVHGARVPHPQGLLPAPAPGEDAVCGCFCCFGCGFPVGEDRQTI*
Codon 152 (Stop)
(B) Mutant Type OSBPL2 Protein (151 amino acid residues)
[A two base pair de novo deletion, c.153_154delCT in OSBPL2 resulting in a frameshift of translation from codon 53 to 151 and terminate translation at codon 152 (p.
Gln53Argfs*100)]
Figure S4
Figure S5
Figure S6
Figure S7