Fig 1.
Pedigree of the affected family, Audiogram and PCR-RFLP analysis.
(A) Pedigree of the affected family with nonsyndromic hearing loss. Arrow denotes the proband. (B) Audiogram of the proband individual II-1 exhibiting bilateral, severe to profound sensorineural hearing loss. (C) Results of PCR-RFLP analysis of DNA of the affected family with nonsyndromic hearing loss. A 993 bp PCR fragment is digested with FauI restriction enzyme. The wildtype DNA is cleaved into four fragments 538, 222, 136 and 97 bp, whereas the c.804delG mutant allele is cleaved into three fragments 635, 222 and 136 bp in length. MW: DNA Ladder (100bp DNA Ladder, REF G2101) (Promega, USA); ND: undigested PCR product.
Fig 2.
Homozygous normal individual (A), Heterozygous individual (B), and affected individual with the c.804delG pathogenic variant in the ILDR1 gene (NM_001199799.1) (C).
Fig 3.
In silico analysis and predicted effect at the protein level of c.3G>A, c.59-5_88del and c.499+1G>A mutations.
Table 1.
ILDR1 reported mutations, described effects and predicted consequences using insilico analysis.
Table 2.
Mutations in ILDR1 gene and associated phenotypes.