Figure 1.
Pedigree and pure tone audiograms of the family SNUBH18.
(A) Whole exome sequencing was performed for two affected (III-1 and II-4) and two unaffected individuals (II-5 and II-1) (red diamond). An additional five individuals (two affected and three unaffected) (blue) were recruited for Sanger validation and further filtering. (B) Individuals I-1, II-4, III-1, and III-3 showed typical high frequency hearing loss, while the others showed a normal hearing threshold over all frequencies.
Table 1.
The mean ± standard deviation (SD) level of hearing impairment at 250, 500, 1000, 2000, 4000, and 8000 Hz from three older subjects.
Figure 2.
p.T237I variant of TECTA in SNUBH18.
(A) Sanger sequencing traces of the p.T237I heterozygote and the wildtype. (B) Sequence variants related to hearing loss in the ENT domain of the TECTA gene. TECTA has five protein domains (NIDO, VWD, C8, TIL and ZP). To date, two missense and two frameshift indel variants related to mid- and all-frequency hearing loss have been discovered in the ENT domain. In contrast, p.T237I in the ENT domain is associated with high-frequency hearing loss. (C) Protein conservation of NIDO proteins among vertebrate species. p.T237 is well-conserved with threonine in Tecta and serine in NIDO proteins.
Table 2.
Whole filtering process to identify a causative variant of deafness from SNUBH18.