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Table 1 Genotype-phenotype correlation of DFNB77 confirmed by segregation analysis

From: Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family

Genotype Ethnicity Severity of HL Progression of HL Reference
c.71delT/c.71delT Turkish Severe or profound NA [13]
c.442A > T/c.4217C > T NA NA NA [19]
c.1588G > T/c.1588G > T Qatary Severe to profound Progressive [12]
c.1618dup/c.1730 T > G Dutch Moderate to severe Stable to progressive [20]
c.1751C > T/c.5815G > A Chinese Severe Progressive [2]
c.1828G > T/c.2641G > A Dutch Mild Stable [20]
c.1904 T > C/c.4678 T > C Dutch Mild Stable to progressive [20]
c.2008C > T/c.2008C > T Iranian Mild to profound Progressive [7]
c.2696G > C/c.3834G > C Dutch Moderate Stable [20]
c.2696G > C/c.5934C > T Dutch Mild NA [20]
c.2863G > T/c.2863G > T Turkish NA NA [10]
c.3061C > T/c.5885C > T Indian Severe Stable [20]
c.3061 + 1G > A/c.6353G > A Dutch Moderate NA [20]
c.3076G > T/c.4375 + 1G > T Japanese Profound Stable [17]
c.3169C > T/c.6353G > A Dutch Severe Stable [20]
c.3371G > A/c.3979 T > A Cameroonian Profound NA [15]
c.3748 + 1G > C/c.6353G > A Dutch Moderate to severe Stable to progressive [20]
c.4212 + 1G > A/c.4212 + 1G > A Japanese Profound Stable [14]
c.4212 + 1G > A/c.5674G > T Japanese Mild to profound Progressive [16]
c.4480C > T/c.4480C > T Turkish NA NA [10]
c.4480C > T/c.5869G > T Japanese Moderate to severe Stable [14]
c.4623C > G/c.5545G > A Czech Severe NA [22]
c.4714C > T/c.4714C > T Ashkenazi Jewish Severe to profound NA [9]
c.5894dupG/c.5894dupG Arab Profound NA [21]
c.5948C > T/c.5948C > T Chinese Profound Stable This study
  1. Abbreviation: NA not available