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Table 2 Summary of genotype and clinical characteristics of three unrelated Iranian families

From: Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness

Family Pedigree Variation Age at test Age of onset Age at cochlear implant Type of HL CAP-II SIR Gender
Chromosome Nucleotide Protein Type Status
Family 1 IV.I Chr3:46,694,176–46,703,459 g.46694176-46703459del Deletion Hom 17y Prelingual 5y Profound 7/9 4/5 Female
IV.4 Chr3:46,694,176–46,703,459 g.46694176-46703459del Deletion Hom 8y Prelingual 5y Profound 6/9 3/5 Male
IV.2 Chr3:46,694,176–46,703,459 g.46694176-46703459del Deletion Het 12y Normal Female
IV.3 Chr3:46,694,176–46,703,459 g.46694176-46703459del Deletion Het 11y Normal Female
III.1 Chr3:46,694,176–46,703,459 g.46694176-46703459del Deletion Het 40y Normal Male
III.2 Chr3:46,694,176–46,703,459 g.46694176-46703459del Deletion Het 36y Normal Female
Family 2 IV.I Chr3: 46,705,816–46,705,817 c.122_125dup p.Pro43AlafsTer73 Frameshift Hom 6y Prelingual 10 m Severe to profound 7/9 5/5 Female
III.1 Chr3: 46,705,816–46,705,817 c.122_125dup p.Pro43AlafsTer73 Frameshift Het 37y Normal Male
III.2 Chr3: 46,705,816–46,705,817 c.122_125dup p.Pro43AlafsTer73 Frameshift Het 30y Normal Female
Family 3 VI.1 Chr3: 46,709,164 c.250 C > T p.(Arg84Trp) Missense Hom 17y Prelingual 10y Profound 6/9 4/5 Female
VI.2 Chr3: 46,709,164 c.250 C > T p.(Arg84Trp) Missense Hom 7y Prelingual 10 m Profound 7/9 5/5 Male
V.1 Chr3: 46,709,164 c.250 C > T p.(Arg84Trp) Missense Het 38y Normal Female
IV.1 Chr3: 46,709,164 c.250 C > T p.(Arg84Trp) Missense Het 36y Normal Male
  1. The annotation was applied according to the Homo sapiens genome assembly GRCh38 (hg 38)
  2. Hom homozygote, Het heterozygote, Y year, M month, CAP II categories of auditory performance, SIR speech intelligibility rating