Table 1 Clinical characteristics of the 13 symptomatic patients with SLC52A3-related Brown-Vialetto-Van Laere syndrome reported in this cohort.
From: SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula
Patients: Families ID | Family 1 | Family 2 | Family 3 | Family 4 | Family 6 | Family 7 | Family 8 | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
F1:P1 | F1:P2 | F1:P5 | F1:P6 | F2:P1 | F2:P2 | F3:P1 | F4:P1 | F5:P1 | F6:P1 | F6:P2 | F7:P1 | F8:P1 | |
Gender | M | M | F | F | F | M | F | F | F | M | F | F | F |
Consanguinity | Yes, 2nd cousin | Yes, 2nd cousin | Yes, 1st cousin | Yes, 1st cousin | Yes, 1st cousin | Yes, 1st cousin | yes, 1st cousin | Yes, 1st cousin | Yes, 1st cousin | Yes | Yes | First cousins | Yes, First cousins |
Ethnic background | Arab: Oman | Arab: Oman | Arab: Oman | Arab: Oman | Arab: Oman | Arab: Oman | Arab: Oman | Arab: Oman | Arab: Oman | Arab: Oman | Arab: Oman | Arab: Saudi Arabia | Arab: Saudi Arabia |
Age at last clinical assessment (years) | 22 | 24 | 25 | 33 | 21 | 17 | 10 | 17 | 23 | 14 | 39 | 5 years | 5 years |
Age at first presentation (years) | 11.5 | 13 | 15 | 23 | 9 | 13 | 7 | 14 | 12 | 11 | 19 | 6 months | 8 months |
Age at genetic diagnosis (years) | 12 | 14 | 15 | 23 | 9 | 9 | 7 | 16 | 21 | 14 | 21 | 8 months | 1.5 year |
Duration of follow-up since diagnosis (years) | 10 | 10 | 10 | 10 | 12 | 8 | 3 | 1 | 2 | 0.5 | 0.5 | 4.5 | 4 |
Family history of affected relatives | Yes | Yes | Yes | Yes | Yes | Yes | No | Yes | No | Yes | Yes | No | Yes |
Prenatal history | Unremarkable | Unremarkable | Unremarkable | Unremarkable | Unremarkable | Unremarkable | Unremarkable | Unremarkable | Unremarkable | Unremarkable | Unremarkable | Unremarkable | Unremarkable |
Clinical presentation | |||||||||||||
Facial diplegia | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | No | Yes | Yes | Yes |
Hearing (Assessment by BAEP) | Bilateral SNHL | Bilateral SNHL | Bilateral SNHL | Bilateral SNHL | Bilateral SNHL | Normal | Bilateral SNHL | Bilaternal SNHL | Bilateral SNHL | Not done | Not done | SNHL | SNHL |
Respiratory symptoms (stridor/vocal cord palsy) | Snoring | Snoring | Snoring | No | No | No | Yes | No | Yes | Yes | No | Yes | Yes |
Squint/Extraocular muscles weakness | Blurred vision | Blurred vision | Blurred vision | No | Blurred vision | No | No | No | No | No | No | No | No |
Ophthalmic findings | b/l optic atrophy, Lt eye cataract | b/l optic atrophy, Lt eye cataract | mild astigmatism and lagophthalmos | Not done | Not done | Not done | Not done | Not done | Not done | Not done | Not done | Normal | Normal |
Feeding difficulties (Dysphagia) | No | No | No | No | Yes | No | No | Yes | Yes | Yes | Yes | No | No |
Motor weakness | Yes | Yes | Yes | Yes | Yes | No | No | No | No | No | No | Yes | Yes |
Ataxia | No | No | Yes | No | No | No | No | No | No | No | No | No | Yes |
Dysarthria /Dysphonia | Yes | No | Yes | Yes | Yes | Yes | No | Yes | No | Yes | Yes | Present | Present |
Psychiatric/behavioral abnormalities | No | No | No | Depression and anxiety | No | No | No | No | No | No | No | No | No |
Compliance issues | No | No | Yes | Yes | Yes | Yes | No | No | No | No | No | No | No |
Latest recorded dose of Riboflavin (in mg/kg/day) | 20 | 20 | 30 | 20 | 23 | 35 | 22 | 20 | 40 | 30 | 30 | 100 | 80 |
Clinical response to Riboflavin | Complete resolution of symptoms | Complete resolution of symptoms | Improved with residual signs or symptoms | persistent symptoms | Improved with residual signs or symptoms | initially diagnosed as asymptomatic, then developed symptoms | Improved with residual signs or symptoms | Improved with residual signs or symptoms | Improved with residual signs or symptoms | Improved with residual signs or symptoms | Improved with residual signs or symptoms | Improved with residual signs or symptoms | Improved with residual signs or symptoms |
Gene | SLC52A3 | SLC52A3 | SLC52A3 | SLC52A3 | SLC52A3 | SLC52A3 | SLC52A3 | SLC52A3 | SLC52A3 | SLC52A3 | SLC52A3 | SLC52A3 | SLC52A3 |
cDNA | c.634C>T | c.634C>T | c.634C>T | c.634C>T | c.634C>T | c.634C>T | c.634C>T | c.634C>T | c.634C>T | c.634C>T | c.634C>T | c.1325_1326del | c.1325_1326del |
