Table 1 Baseline demographics and genetics
From: Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Distribution | |
|---|---|---|---|---|---|---|---|
Gender | female | female | male | female | female | female | 5: 1, female: male |
Consanguinity by history | yes | no | yes | no | yes, sibling of patient 1 | no; genealogy demonstrated common ancestors, i.e. very distant relation | 3: 3, yes: no |
Allelesa | homozygous | homozygous | homozygous | compound eterozygous | homozygous | homozygous | 5: 1, homozygous: compound heterozygous |
AP3B1 mutation 1 | c.3222-3223delTG (b) | g.151312_159483del8172bp (c) | c.2546 T > G (b) | c.177delA (b) | c.3222-3223delTG (b) | c.2944delC (b) | |
AP3B1 mutation 2 | c.3222-3223delTG (b) | g.151312_159483del8172bp (c) | c.2546 T > G (b) | c.1839_1842delTAGA (b) | c.3222-3223delTG (b) | c.2944delC (b) | |
Previously described; predicted pathogenic effect of mutations | known [10]; likely pathogenic variant (frame shift) | known [28]; likely pathogenic variant (exon skipping) | unknown; likely pathogenic variant (stop-mutation; early termination in exon 22 instead of 27) | unknown; likely pathogenic variant (frameshift mutations and subsequent early terminations in exons 2 and 17) | known [10]; likely pathogenic variant (frame shift) | unknown, likely pathogenic variant (frame shift; early termination in exon 26) | 2 known, 4 previously unknown variants |