Table 1 Clinical, molecular and glycosylation features in patients with SLC39A8-CDG
From: Clinical, molecular and glycophenotype insights in SLC39A8-CDG
Patients [Ref.] | 1 | 2 | 3 | 41 | 51 | 62 | 72 | 82 | 92–102 | 112 | 122–132 | 143–153 | 164 | 174 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Ethnicity | Italian | Romanian | German | German | Hutterite | Hutterite | Hutterite | Hutterite | Hutterite | Egyptian | Lebanese | Turkish | Hutterite | ||||
Sex/Age (years) | M/10 | F/9 | M/5 | F/1 | F/19 | F/13 | M/17 | M/8 | F/5 | F/5 | M/9 | F/8 | M/2 | F/2 | F/12 | F/3 | M/2 |
Progressive clinical course | +/+ | +/+ | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | −/− | +/+ | +/− | +/+ | +/− |
Genotype | c.1048G > A c.131C > G | c.1171G > A c.1171G > A | c.112G > C c.1019 T > A | c.97G > A; c.1004G > C/ c.610G > T | c.112G > C c.112G > C | c.112G > C c.112G > C | c.112G > C c.112G > C | c.112G > C c.112G > C | c.112G > C/ c.112G > C | c.112G > C/ c.112G > C | c.338G > C/ c.338G > C | c.608 T > C c.608 T > C | c.112G > C c.112G > C | ||||
Protein | G350A S44T | A391T A391T | G38R I340N | V33M; S335T G204C | G38R G38R | G38R G38R | G38R G38R | G38R G38R | G38R G38R | G38R G38R | C113S C113S | F203S F203S | G38R G38R | ||||
Serum transferrin IEF Type 2 pattern° | + | +/− | +/− | + | + | ND | + | ND | + | ND | ND | ND | + | Normal | Normal | ||
Serum N-glycans Increased A2G1S1 | + | + | + | + | + | ND | ND | ND | ND | ND | ND | ND | ND | ND | + | + | |
Neurological features | |||||||||||||||||
DD/ID | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ | +/+ |
Microcephaly | − | − | − | − | − | − | − | − | − | − | − | − | − | ND | − | − | + |
Hypotonia | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | − |
Lower limb stifness | + | − | − | ND | − | − | − | − | − | − | − | − | − | + | + | − | + |
Epilepsy (onset) | +(5 y) | − | − | +(4 m) | +(1 y) | − | − | − | − | − | + | + | − | + | + | + | +(5 m) |
Dystonia/ Dyskinesia | +/+ | + | +/+ | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | + | + | + | + |
Strabismus | − | − | + | + | + | + | + | + | + | + | − | + | + | − | + | + | − |
Hearing loss | − | − | − | + | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | + | − |
Neuropathy | + | ND | − | ND | ND | ND | ND | ND | ND | ND | − | − | − | + | − | ND | ND |
Brain MRI changes | |||||||||||||||||
Basal Ganglia | + | + | − | − | − | − | − | − | − | − | − | − | − | + | + | + | + |
Thalamus | + | + | + | − | − | − | − | − | − | − | − | − | − | − | − | − | − |
White Matter | + | + | + | − | − | − | − | − | − | − | − | − | − | − | − | + | − |
Cerebral/ Cerebellar atrophy | +/+ | +/+ | −/− | +/− | −/+ | −/+ | −/+ | −/+ | −/+ | ND | −/+ | −/+ | +/+ | +/ | +/− | −/− | −/− |
Systemic features | |||||||||||||||||
Dysmorphisms | − | − | − | + | − | − | − | − | − | − | − | − | − | + | + | + | + |
Skeletal changes | + | − | + | + | + | + | + | − | ND | ND | ND | ND | ND | − | + | ND | ND |
Hepatopathy | + | − | − | + | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | − | + | − |
Feeding difficulties | + | + | + | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | + | + | + | + |