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Table 1 Exome sequencing study subjects

From: Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss

Study number Sex Ethnicity Age of onset Level and type of hearing loss Condition Family history Other findings Sequence variation
1 M Mexican Congenital Bilateral profound, sensorineural Stable Similarly affected sibling None GJB2, SLC26A4: negative
2 F Native American Congenital Bilateral moderate, sensorineural Unknown Negative None GJB2: negative
3 F East Asian Age 9 High frequency sensorineural hearing loss, left more severe Unknown Negative None GJB2 and GJB6: negative; SLC26A4: heterozygous for c.463 A > G, p.Met155Val (a novel variant of uncertain pathogenic significance)
4 M Mexican Congenital Bilateral profound, sensorineural Stable Similarly affected sibling None GJB2 and GJB6: negative
5 M Caucasian Age 2 Bilateral mild to moderate, sensorineural Progressive Mother with bilateral severe hearing loss, recognized around age 16 None GJB2: negative
6 F Caucasian Congenital L - profound, R - moderate, sensorineural Stable Similarly affected sibling None GJB2: negative
7 M Mexican Congenital Bilateral severe to profound, sensorineural Stable Negative None GJB2: negative
8 F Caucasian-East Asian Age 1 L- severe, R - profound, sensorineural Unknown Unknown None GJB2: negative
9 M Caucasian-African American Congenital L - moderate, mixed hearing loss, R - moderate, sensorineural Stable Negative None GJB2: negative
10 M Mexican Congenital Bilateral moderate, sensorineural Stable Hearing of unknown etiology loss on paternal side None GJB2, SLC26A4: negative
11 F Mexican Congenital Bilateral moderate, sensorineural Stable Negative None GJB2: negative
12 M Caucasian Congenital Bilateral moderate, sensorineural Stable Negative None GJB2: negative
13 M East Asian After age 7, confirmed at age 14 Bilateral profound, sensorineural Progressive Negative None GJB2: heterozygous for c.11G > A, p.Gly4Asp (a variant of uncertain pathogenic significance)
F1.1 M Middle Eastern N/A N/A Unaffected Affected offspring None; consanguineous  
F1.2 F Middle Eastern N/A N/A Unaffected Affected offspring None; consanguineous  
F1.3 M Middle Eastern Congenital Bilateral severe to profound, sensorineural Progressive Proband with similarly affected siblings Megalocornea with secondary glaucoma GJB2 and GJB6: negative
F1.4 M Middle Eastern Congenital Bilateral severe to profound, sensorineural Progressive Similarly affected siblings Megalocornea with secondary glaucoma  
F1.5 F Middle Eastern Congenital Bilateral severe to profound, sensorineural Progressive Similarly affected siblings Megalocornea with secondary glaucoma  
F2.1 M Caucasian N/A N/A Unaffected Affected offspring None, normal chromosomes  
F2.2 F Caucasian N/A N/A Unaffected Affected offspring None, normal chromosomes  
F2.3 F Caucasian Congenital Bilateral moderate, sensorineural Stable Proband with similarly affected identical twin None GJB2, GJB6, mitochondrial mutation panel: negative
F2.4 F Caucasian Congenital Bilateral moderate, sensorineural Stable Similarly affected identical twin None GJB2, GJB6, mitochondrial mutation panel: negative
F2.5 M Caucasian Congenital Bilateral moderate, sensorineural Stable Affected sibling Multiple congenital abnormalities partial chromosome 7 deletion GJB2, GJB6, mitochondrial mutation panel: negative
F3.1 M Caucasian N/A N/A Unaffected Affected offspring None  
F3.2 F Caucasian Unknown Mild Unknown Affected offspring, affected mother Mother reported to have a white forelock  
F3.3 M Caucasian Failed initial newborn screening but passed a rescreen. At age 3 mild to moderate hearing loss was identified Bilateral mild to moderate Progressive Proband with similarly affected sibling, mildly affected mother and maternal grandmother None GJB2, GJB6, SLC26A4: negative
F3.4 M Caucasian Congenital Bilateral mild to moderate Progressive Similarly affected sibling, mildly affected mother and maternal grandmother None  
  1. Abbreviations: F – female, M – male. Ethnicity was determined using Principal Components Analysis with the Human Genome Diversity Panel.