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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 3 years c.1784T>C p.Met595Thr Zhong et al. [11]
6 SASH1 Dyschromatosis universalis hereditaria Autosomal-dominant inheritance 7 months c.1651T>C p.Tyr551His Zhong et al. [11]
7 SASH1 Dyschromatosis universalis hereditaria Autosomal-dominant inheritance 2 years c.1553A>C p.Gln518Pro Wu et al. [12]
8 SASH1 Dyschromatosis universalis hereditaria Autosomal-dominant inheritance 4 years c.1529G>A p.Ser510Asn Our present study
9 SASH1 Lentiginous phenotype Autosomal-dominant inheritance 1 year c.1556G>A p.Ser519Asn Shellman et al. [13]
10 SASH1 Lentiginous phenotype Autosomal-dominant inheritance 3 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 18 months c.1519T>G p.Ser507Ala Wang et al. [15]
13 SASH1 Lentiginous phenotype Sporadic 14 months c.1758C>G p.Ile586Met Yuta Araki et al. [16]
14 SASH1 Lentiginous phenotype Autosomal-dominant inheritance 2 years c.1592C>A p.Ser531Tyr Yuta Araki et al. [16]
15 SASH1 Lentiginous phenotype Autosomal-dominant inheritance 3 years c.1930C>T p.Arg644Trp Yuta Araki et al. [16]
16 SASH1 Lentiginous phenotype Sporadic 2 years c.1574C>G p.Thr525Arg Yuta Araki et al. [16]
17 SASH1 Lentiginous phenotype Sporadic 8 months c.1547G>T p.Ser516Ile Yuta Araki et al. [16]
18 SASH1 Dyschromatosis-universalis-hereditarian-like pigmentation Autosomal-recessive inheritance 1 year c.1849G>A p.Glu617Lys Courcet et al. [17]