Table 1 SASH1 mutations associated with pigmentation disorders
From: Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria
Number | Gene | Clinical phenotypes | Mode of inheritance | Onset age | Nucleotide change | Amino acid change | References |
|---|---|---|---|---|---|---|---|
1 | SASH1 | Dyschromatosis universalis hereditaria | – | – | c.2000G>A | p.Glu509Lys | Zhou et al. [5] |
2 | SASH1 | Dyschromatosis universalis hereditaria | – | – | c.2019T>C | p.Leu515Pro | Zhou et al. [5] |
3 | SASH1 | Dyschromatosis universalis hereditaria | – | – | c.2126T>G | p.Tyr551Asp | Zhou et al. [5] |
4 | SASH1 | Dyschromatosis universalis hereditaria | Autosomal-dominant inheritance | < 1 year | c.1761C>G | p.Ser587Arg | Chinese Journal of Dermatology |
5 | SASH1 | Dyschromatosis universalis hereditaria | Autosomal-dominant inheritance | 3Â years | c.1784T>C | p.Met595Thr | Zhong et al. [11] |
6 | SASH1 | Dyschromatosis universalis hereditaria | Autosomal-dominant inheritance | 7Â months | c.1651T>C | p.Tyr551His | Zhong et al. [11] |
7 | SASH1 | Dyschromatosis universalis hereditaria | Autosomal-dominant inheritance | 2Â years | c.1553A>C | p.Gln518Pro | Wu et al. [12] |
8 | SASH1 | Dyschromatosis universalis hereditaria | Autosomal-dominant inheritance | 4Â years | c.1529G>A | p.Ser510Asn | Our present study |
9 | SASH1 | Lentiginous phenotype | Autosomal-dominant inheritance | 1Â year | c.1556G>A | p.Ser519Asn | Shellman et al. [13] |
10 | SASH1 | Lentiginous phenotype | Autosomal-dominant inheritance | 3Â years | c.1537A>C | p.Ser513Arg | Zhang et al. [14] |
11 | SASH1 | Lentiginous phenotype | Sporadic | – | c.1527_1530dupAAGT | p.Leu511Lysfs*21 | Zhang et al. [14] |
12 | SASH1 | Lentiginous phenotype | Autosomal-dominant inheritance | 18Â months | c.1519T>G | p.Ser507Ala | Wang et al. [15] |
13 | SASH1 | Lentiginous phenotype | Sporadic | 14Â months | c.1758C>G | p.Ile586Met | Yuta Araki et al. [16] |
14 | SASH1 | Lentiginous phenotype | Autosomal-dominant inheritance | 2Â years | c.1592C>A | p.Ser531Tyr | Yuta Araki et al. [16] |
15 | SASH1 | Lentiginous phenotype | Autosomal-dominant inheritance | 3Â years | c.1930C>T | p.Arg644Trp | Yuta Araki et al. [16] |
16 | SASH1 | Lentiginous phenotype | Sporadic | 2Â years | c.1574C>G | p.Thr525Arg | Yuta Araki et al. [16] |
17 | SASH1 | Lentiginous phenotype | Sporadic | 8Â months | c.1547G>T | p.Ser516Ile | Yuta Araki et al. [16] |
18 | SASH1 | Dyschromatosis-universalis-hereditarian-like pigmentation | Autosomal-recessive inheritance | 1Â year | c.1849G>A | p.Glu617Lys | Courcet et al. [17] |