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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 + + + +
  1. Others features: Atrial septal defect (Pt 16); Gastrostomy (Pts 1,2, 15,17); Skeletal abnormalities: Scoliosis (Pts 1,3,5,15), Craniosynostosis (Pt 4), Cranial asymmetry (Pt 3), Dwarfism (Pt 3), Osteopenia (Pt 6,7) Broadened long bone epiphysis (Pts 7); Joint hypermobility (Pts 5, 6, 7); Muscle Biopsy: Reduction of respiratory chain complexes I or I+III activity (Pts 1,2), Reduction of respiratory chain complex IV (Pts 14–15), Atrophic fibers with some subsarcolemmal lipid accumulation (Pt 14), Normal (Pt 2)
  2. Age (years): age at last examination (years); F: female; M: male; m: months; ND: not determined; Pt(s): patient(s); y: years; +: present; −: Absent