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Table 3 Interventions of SNHL in reported MDPL

From: A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient

Previous publications

Age at SNHL onset (years)

Interventions

Shastry et al. [1], patient 100.3

18

NA

Shastry et al. [1], patient 200.5

15

NA

Shastry et al. [1], patient 300.4

7

NA

Shastry et al.[1], patient 400.3

8

NA

Shastry et al. [1], patient 500.4

16

NA

Shastry et al. [1], patient 600.4

14

NA

Shastry et al. [1], patient 700.3

6

NA

Weedon et al. [2], patient 1

12

Bilateral hearing aids

Weedon et al. [17], patient 2

33

NA

Pelosini et al. [9]

25

Hearing aid

Reinier et al. [10]

10

NA

Lessel et al. [3], patient 1

N

NA

Lessel et al. [3], patient 2

12

NA

Lessel et al. [3], patient 3

11

NA

Lessel et al. [3], patient 4

N

NA

Lessel et al. [3], patient 5

14

NA

Lessel et al. [3], patient 6

14

NA

Lessel et al. [3], patient 7

N

NA

Lessel et al. [3], patient 8

NA

NA

Ajluni et al. [18], patient 6

N

N

Ajluni et al. [18], patient 7

N

N

Elouej et al. [7], patient 1

N

N

Elouej et al. [7], patient 2

4

Bilateral hearing aids

Okada et al. [11]

7

Hearing aids

Wang et al. [12]

10

Hearing aids

Fiorillo et al. [13]

2

NA

Sasaki et al. [14]

Puberty

NA

Wang et al. [15]

15

NA

Oh et al. [8], SB127-219

NA

NA

Oh et al. [8], SB127-277

NA

NA

Yu et al. [16]

25

NA

Zhou et al. [17]

20

NA

Murdocca et al. [6]

NA

NA

This study proband

6

Bilateral hearing aids

  1. SNHL, sensorineural hearing loss; MDPL, mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; N, no; NA, not available