Table 1 Clinical details of patients A, B, C, D and E affected by LICS syndrome
Family 1 | Family 2 | ||||
|---|---|---|---|---|---|
A | B | C | D | E | |
Gender (M/F) | M | F | F | M | F |
Age at death (months) | 15 | 11 | 15 | 11 | 78 |
Mutation NSMCE3 | Homozygous NSMCE3 (NM_138704.3):c.790C > T | Homozygous NSMCE3 (NM_138704.3):c.790C > T | |||
Common features | |||||
Gestational age (weeks) | 38 + 3 | 37 | 37 + 3 | 41 | AT |
Birth weight (grams) | 2450 | 2240 | 3100 | 3380 | 4000 |
SGA | + | + | − | − | − |
FTT | ++ | ± | ++ | + | ++ |
Neurological features | |||||
Delayed motor milestones | + | + | + | + | − |
Increased infection susceptibility | − | − | − | − | − |
Pulmonary features | |||||
Interstitial pneumonia | + | + | + | + | NR |
Viral pneumonia | − | − | − | − | − |
Thymic hypoplasia | − | − | NR | NR | NR |
Hypo- or hyperglycemia | NR | Hyper | Hyper | NR | Hypo |
Hepato-splenomegaly | NR | + | NR | NR | + |