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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
  1. aAll parents tested were heterozygous for the respective variants; not tested in patient 3. bGenBank References (NM_003664.4) and c(NG_007268.1)