Table 1 SNVs identified by WES in 25 patients with inherited skin disorders
From: Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders
Case | Age | Sex | Diagnosis | Gene | Nucleotide change | Protein change | mutation | Het/Hom | Inheritance | PE | Reported |
|---|---|---|---|---|---|---|---|---|---|---|---|
#1 | 38 | F | Neurofibromatosis | NF1 | c.5546G>C | p.R1849P | missense | Het | AD | P | this study |
#2 | 31 | F | Neurofibromatosis | NF1 | c.5242 C>T | p.R1748X | nonsense | Het | AD | P | reported |
#3 | 28 | F | Neurofibromatosis | NF1 | c.1457delC | p.T486Kfs*12 | frameshift | Het | DN | P | this study |
#4 | 36 | M | Neurofibromatosis | negative | NA | NA | NA | NA | Un | NA | NA |
#5 | 27 | F | Neurofibromatosis | negative | NA | NA | NA | NA | AD | NA | NA |
#6 | 18 | M | Epidermolysis bullosa | COL7A1 | c.6110G>T | p.G2037V | missense | Het | AD | P | this study |
#7 | 58 | F | Epidermolysis bullosa | negative | NA | NA | NA | NA | AD | NA | NA |
#8 | 13 | F | Epidermolysis bullosa | negative | NA | NA | NA | NA | Un | NA | NA |
#9 | 29 | F | Epidermolysis bullosa | negative | NA | NA | NA | NA | Un | NA | NA |
#10 | 34 | F | Tuberous sclerosis complex | TSC1 | c.2127delG | p.R709Sfs*15 | frameshift | Het | AD | P | this study |
#11 | 27 | M | Tuberous sclerosis complex | TSC1 | c.2690delT | p.F897Sfs* | frameshift | Het | AD | P | reported |
#12 | 7 | F | Tuberous sclerosis complex | TSC2 | c.3206_3207delTG | p.V1069fs) | frameshift | Het | AD | P | reported |
#13 | 23 | M | Tuberous sclerosis complex | negative | NA | NA | NA | NA | Un | NA | NA |
#14 | 30 | M | Albinism | TYR | c.230_232dupGGG | p.R77_E78insG | duplication | C-Het | AR | P LP | reported this study |
c.1445 C>A | p.A482E | missense | |||||||||
#15 | 5 | F | Albinism | TYR | c.346 C>T c.1265G>A | p.R116X p.R422Q | nonsense missense | C-Het | AR | P P | reported this study |
#16 | 32 | M | Albinism | TYR | c.832 C>T | p.R278X | nonsense | Hom | AR | P | reported |
#17 | 33 | M | Ichthyosis vulgaris | negative | NA | NA | NA | NA | AD | NA | NA |
#18 | 24 | M | Ichthyosis vulgaris | STS | Xp22.31 deletion | na | deletion | Hem | XR | P | this study |
#19 | 28 | F | Keratosis follicularis | ATP2A2 | c.908 C>T | p.A303V | substitution | Het | AD | P | this study |
#20 | 17 | M | Keratosis follicularis | ATP2A2 | c.2381T>A | p.V794D | missense | Het | AD | P | reported |
#21 | 30 | F | Pachyonychia congenita | KRT16 | c.383T>C | p.L128P | missense | Het | AD | P | reported |
#22 | 32 | F | Incontinentia pigmenti | IKBKG | c.1371insC | p.E458Rfs*5 | frameshift | Het | XD | P | this study |
#23 | 25 | M | Palmoplantar keratosis | SERPINB7 | c.796 C>T | p.R266X | nonsense | Hom | AR | P | reported |
#24 | 43 | M | Becker nevus syndrome | negative | NA | NA | NA | NA | Un | NA | NA |
#25 | 35 | F | Steatocystoma multiplex | negative | NA | NA | NA | NA | Un | NA | NA |