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 |