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Table 1 Clinical follow-up and examinations of patients clinically diagnosed with syndromic or nonsyndromic mimics hearing loss

From: Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss

Proband

Clinical diagnosis

Gene

Allele 1

Allele 2

Disease

Severity of HL

Age at latest follow-up (m)

Clinical follow-up and examinations

Management change

P8

SHL

MYO7A

c.3696_3706del

c.3696_3706del

Usher syndrome, type 1B

profound

42

Ophthalmoscopy, no abnormality

Annual ophthalmologic evaluation

        

Peabody Developmental Motor Scales, mild developmental delay

 

P10

SHL

Multiple genes

seq[GRCh37]del(17p11.2 p11.2) chr17:g.16670884-20391194del

-

Smith-Magenis Syndrome

moderate

35

Revised Gesell Developmental Schedules: Developmental delay

Referral to new specialist

P13

SHL

CREBBP

c.3699-1G>A

-

Menke-Hennekam syndrome 1

profound

53

Ultrasound inspection, Inguinal hernia

Surgery management

P46

SHL

MYO7A

c.6320G>A

c. 6126C>G

Usher syndrome, type 1B

profound

23

Ophthalmoscopy, no abnormality

Annual ophthalmologic evaluation

        

Peabody Developmental Motor Scales, mild developmental delay

 

P62

SHL

EYA1

Exon 8–9 del

-

Branchiootic syndrome

severe

53

Physical examination, preauricular pits, mild cup-shaped ears, small right ear

External ear development monitoring

P33

NSHL mimics

GJB2

c.263C>T and c.109G>A

-

Keratitis-ichthyosis-deafness syndrome

profound

25

Physical examination, no abnormality

Referral to new specialist

P38

NSHL mimics

MITF

c.641G>A

-

Waardenburg syndrome, type 2A

profound

28

Physical examination, no abnormality

Referral to new specialist

P42

NSHL mimics

FGFR3

c.749C>G

-

Muenke syndrome

moderate

26

Physical examination, no abnormality

Referral to new specialist

P43

NSHL mimics

MITF

c.877C>T

-

Waardenburg syndrome, type 2A

profound

30

Physical examination, no abnormality

Referral to new specialist

P54

NSHL mimics

KCNQ1

c.1684A>G

Exon 8–9 del

Jervell and Lange-Nielsen syndrome

profound

18

Electrocardiography, no abnormality

Paddles for defibrillation during cochlear implantation surgery; cardiac monitoring

P72

NSHL mimics

MITF

c.877C>T

-

Waardenburg syndrome, type 2A

profound

15

Physical examination, no abnormality

Referral to new specialist

  1. P, Proband, m, month, HL, hearing loss, SHL, syndromic hearing loss, NSHL mimics, nonsyndromic hearing loss mimics