Background
Methods
Subject information
Whole exome sequencing
Bioinformatics, databases
Results
CIE7-A1 | CIE9-A1 | CIE11-A1 | CIE12-A2 | CIE13-A1/A2 | CIE16-A1 | CIE17-A1 | CIE-21-A1 | CIE-29-A1 | |
---|---|---|---|---|---|---|---|---|---|
Gender | M | F | F | F | M | F | F | F | M |
Gene mutated |
TPP1
|
EXOSC3
|
PLA2G6
|
MOCS2
|
PLA2G6
|
SURF1
|
MFSD8
|
KIF1A
|
PLA2G6
|
Genbank reference | NM_000391.3 | NM_016042.3 | NM_003560.2 | NM_176806.3 | NM_003560.2 | NM_003172.3 | NM_152778.2 | NM_001244008.1 | NM_003560.2 |
Mutation cDNA level | c.790C > T | c.395A > C | c.2070_2072del | c.3G > A | c.2070_2072del | c.237G > A | c.1213C > T | c.173C > T | c.1613G > A |
Mutation protein level | p.Q264* | p.D132A | p.V691del | p.M1? | p.V691del | p.W79* | p.Q405* | p.S58L | p.R538H |
Final diagnosis | CLN2 Late infantile | Mild PCH type 1B | PLAN/INAD | Mild MoCo deficiency | PLAN/INAD | LEIGH SYNDROME | CLN7 | AD ID | PLAN/INAD |
Age of onset (years.months) | 3.1 | 1 | 0.9 | Neonatal | 1.6/1.0 | 1 | 0.6 | 2.0 | 1.5 |
Last follow-up (years.months) | 4.6 | 1.9 | 3.0 | 6.0 | 4.0/2.0 | 4.7 | 3.6 | 5.0 | 3.6 |
Initial symptom | Convulsions | Developmental delay | Convulsions | Developmental delay | Convulsions | Gait disturbance | Developmental delay | Gait disturbance | Developmental regression |
Development | |||||||||
Developmental delay | + | + | + | + | + | + | + | + | + |
Motor developmental delay | + | + | + | + | +/++ | + | + | + | + |
Social development delay | + | + | + | + | +/++ | + | ++ (autistic features) | + | + |
Progressive condition | + | - | Mildy progressive | - | + | + | + | - | + |
Seizures | |||||||||
Description | Focal epileptic activity | GTC | Focal Right-temporal discharges, GTC | Left fronto-temporal epileptogenic dysfunction | Focal, GTC | GTC | Right frontal epileptogenic focus, Akinetic fits | Right-temporal activity, intractable epilepsy | GTC |
Neurological Findings | |||||||||
Hypotonia | + | + | + | - (Hypertonia) | + | + | + | + | + |
Nystagmus | - | + | + | - | + | + | - | - | + |
Wide-based, staggering gait | + | + | Enable to walk | Wide based gait | + | Tetubation, ataxia | + | Wide-based, staggering gait | Tetubation,ataxia |
Peripheral neuropathy | - | + | + | - | + | + | - | + | + |
MRI | |||||||||
Cerebellum:Hypoplasia/Progressive or fixed Atrophy | Atrophy/hypoplasia | Atrophy | Atrophy,hypoplasia, dilated cisterna magna | Atrophy | Atrophy | Atrophy + abnormal signal intensity | Atrophy | Atrophy | Atrophy |
Brainstem | - | - | - | - | - | Abnormal signal intensity as well as in BG | - | - | - |
Cerebral cortex | Mild cortical atrophy | - | - | Right frontal arachnoid cyst, mild frontal lobe atrophy | Mild cortical atrophy/- | - | Atrophy | - | - |
Ventricular system | - | - | Dilated | - | Moderate dilatation | - | Mild dilatation | - | - |
Facial dysmorphism | - | Squint | - | Mild dysmorphism | - | - | - | - | - |
Ophtalmologic finding | Fundus exam: Macular lesion | - | - | - | - | - | - | - | - |
Relevant metabolic result | High Plasma S-Sulphocysteine level and high plamsa Xhantine level (see text) | Plasma lactate in the normal range | Blood ammonia: 62.2 μmol/L (normal 15–45); blood lactate: 20.6 mmol/L (normal = 0.5-2.2) |