Table 1.
Summary of clinical and molecular features in non-Puerto Rican Hispanic patients.*
| Patient | Age (years) |
Sex | Ancestry | Gene | Allele 1 | Allele 2 | Bleeding | Lung fibrosis |
GI |
|---|---|---|---|---|---|---|---|---|---|
| HPS117-1 | 29 | M | Mex | HPS1 | c.972delC (ex 11) | ND | Br | + | − |
| p.M325WfsX6 | (FVC 44%) | ||||||||
| HPS118-1 | 39 | F | Mex | HPS1 | c.972delC (ex 11) | ND | Br | + | − |
| p.M325WfsX6 | (FVC 69%) | ||||||||
| HPS125-5 | 8 mo | M | Mex | HPS5 | c.1423delC (ex 12) | ND | E, Br | − | − |
| p.L475SfsX37 | |||||||||
| HPS150-4 | 2 | M | Uru | HPS4 | c.45G>A (ex 3) | c.47delA | E, Br | − | − |
| p.W15X | p.N16IfsX11 | ||||||||
| HPS163-1 | 16 | M | Hon/Sal | HPS1 | c.467_476del | c.467_476del | Br | − | + |
| p.Y156CfsX16 (ex6) | p.Y156CfsX16 (ex6) | ||||||||
| HPS353-5 | 3 | M | Cub/Ven | HPS5 | c.302_305delTTTG | c.1,634+1G>A (in13) | E, Br | − | − |
| p.V101GfsX3 (ex 5) |
*
Abbreviations: +, present; −, absent; Br, easy bruising; Cub, Cuban; E, epistaxis; F, female; FVC, Forced Vital Capacity; GI, gastrointestinal symptoms; Hon, Honduran; M, male; mo, months; ND, not determined; Mex, Mexican; Sal, Salvadoran; Uru, Uruguayan; Ven, Venezuelan