Table 1.
Phenotype | A:1 | A:2 | B:1 | C:1 | D:1 | E:1 | F:1 | F:2 | F:3 | F:4 |
---|---|---|---|---|---|---|---|---|---|---|
Sex | F | M | M | M | M | M | M | F | M | F |
Age (last Wt, L) | 6.8 | 5.7 | 2.7 | 28.4 | 8.0 | 21.8 | 19 | 42.3 | 41.3 | 15 |
Birth Wt (SDS) | −0.79 | −0.97 | −1.62 | NR | +0.91 | −3.84 | NR | NR | NR | NR |
Birth L (SDS) | +1.47 | +2.26 | −3.09 | NR | −1.47 | NR | NR | NR | NR | NR |
Current Wt | −1.35 | −1.65 | −2.26 | −1.39 | 0.12 | −1.46 | NR | +1.84 | −0.39 | NR |
Current height | −2.03 | −1.23 | −2.11 | −3.97 | −1.55 | −1.64 | NR | −2.50 | −2.36 | NR |
Chorioretinopathy | + | + | + | + | + | + | + | + | + | + |
Trichomegaly | + | +/− | + | +/− | + | + | NR | − | + | NR |
Alopecia | − | − | − | + | − | + | NR | + | − | NR |
Facial dysmorphisms | + | + | − | + | − | NR | NR | + | + | NR |
Intellectual disability | − | − | − | − | − | + | + | + | + | + |
Short stature | + | + | + | + | + | + | + | + | + | + |
Delayed bone age | + | + | + | NR | + | + | NR | NR | NR | NR |
Small A pituitary | + | + | + | + | + | + | NR | + | NR | NR |
GH deficiency | + | + | + | + | + | + | + | + | + | + |
Hypothyroidism | + | + | +/− | − | +/− | + | − | − | − | − |
Micropenis | NA | − | + | + | + | + | + | NA | + | NA |
Hypogonadism | NA | NA | NA | + | NA | + | + | + | + | + |
Ataxia | − | − | − | − | − | + | + | + | + | + |
Spastic paraplegia | − | − | − | − | − | + | + | + | + | + |
Peripheral neuropathy | − | − | + | − | − | + | + | + | + | + |
Polydactyly | − | − | − | − | − | − | − | − | − | − |
Obesity | − | − | − | − | − | − | − | + | − | − |
PNPLA6 alleles | p.Arg1099Gln p.Gly1176Ser |
p.Arg1031fs*38 p.Gly1129Arg |
c.1973+2T>G p.Val1215Ala |
dup(Ex14–20) p.Val1215Ala |
p.Arg1031fs*38 p.Gly1129Arg |
p.Gly726Arg p.Arg1031fs*38 |
A, anterior; GH, growth hormone; L, length; NA, information not applicable; NR, information not recorded; Wt, weight.