Table 1 A review of our patient’s report and all past cases.
From: EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review
Table 1 | Family 1 | Family 2 | Family 3 | Family 4 | Family 5 |
|---|---|---|---|---|---|
Variation | c.88 C > T p.Gln30Ter | c.115delA p.Thr39Glnfs*32 | c.205-8 A > G p.(?) | c.1435-2 A > T p.His479Cysfs* | c.1259 G > A p.Trp420Ter |
Phenotype | Nonsyndromic HL | Nonsyndromic HL | Nonsyndromic HL | Nonsyndromic HL | Nonsyndromic HL |
Descent | Algerian | Tunisian | Pakistani | Chinese | Iranian |
Severity of HL | Profound | Mild-to-profound | Severe-to-profound | Profound | Profound |
Laterality of HL | Bilateral | N/A | N/A | Bilateral | Bilateral |
Zygosity | Homozygous | Homozygous | Homozygous | Apparent homozygosity | Homozygous |
Family history | Parental consanguinity | Parental consanguinity | Parental consanguinity | Parental nonconsanguinity | Parental consanguinity |
Additional explanations | — | — | — | c.1435-2 A > T and 65.9 kb deletion | — |
References | This study |
