Table 3 Summary of All Reported PCDH15 Mutations Associated with Type I USH Or Nonsyndromic

Supplementary Table 2 Summary of all reported PCDH15 mutations associated with type I USH or nonsyndromic deafness DFNB23

Nucleotide change / Protein effect / Domain / Phenotype / Population / Reference
~190 kb deletion / unknown / Nter / USH1 / Fr / (Le Guedard et al. 2007)
~341 kb deletion / unknown / Nter / USH1 / Fr / (Le Guedard et al. 2007)
~684 kb deletion / unknown / Nter / USH1 / Fr / (Le Guedard et al. 2007)
c.7C®T / p.R3X / SP / USH1 / Pak, Ind / this study, (Ahmed et al. 2001; Alagramam et al. 2001b)
c.16delT / p.Y6IfsX4 / SP / USH1 / USAa / (Ouyang et al. 2005; Zheng et al. 2005)
c.400C®G / p.R134G / EC1 / DFNB23 / Pak / this study, (Ahmed et al. 2003)
c.400C®T / p.R134X / EC2 / USH1 / NA / (Cremers et al. 2007)
c.533A®G / p.D178G / EC2 / USH1 / Pak / this study
c.423_430dup / p.S144LfsX15 / EC2 / USH1 / Fr / (Roux et al. 2006)
c.733C®T / p.R245X / EC2 / USH1 / Ask / (Ben-Yosef et al. 2003)
c.785G®A / p.G262D / EC2 / DFNB23 / Pak / (Ahmed et al. 2003)
c.866_876+6del / unknown / b / USH1 / Fr / (Roux et al. 2006)
c.868A®T / p.R290X / b / USH1 / Fr / (Roux et al. 2006)
c.996_999delGGAT / p.E332DfsX20 / EC3 / USH1 / Eur / (Ouyang et al. 2005)
c.1036G®T / p.E346X / EC3 / USH1 / Fr / (Roux et al. 2006)
c.1088delT / p.F361LfsX58 / EC3 / USH1 / Hut / (Alagramam et al. 2001b)
c.1927C®T / p.R643X / EC6 / USH1 / Pak, Fr / (Ahmed et al. 2003; Roux et al. 2006)
c.1940C®G / p.S647X / EC6 / USH1 / Pak / this study
c.2052C®A / p.Y684X / EC6 / USH1 / Pak / this study
c.2483delT / p.E829KfsX12 / b / USH1 / Pak / this study
c.2785C®T / p.R929X / b / USH1 / USAa / (Ouyang et al. 2005)
c.2971C®T / p.R991X / EC9 / USH1 / Fr / (Roux et al. 2006)
c.3121A®T / p.R1041X / c / USH1 / Fr / (Roux et al. 2006)
c.3502-2A®G / frameshift / c / USH1 / Pak / (Ahmed et al. 2001)
c.3717+1G®T / frameshift / c / USH1 / Pak / this study
c.4024C®A / p.Q1342K / CD1 / USH1 / USAa / (Ouyang et al. 2005)
c.4257delA / p.L1419FfsX99 / CD1 / USH1 / Pak / this study
c.4323_4328delTCCGCC / p.1441_1442delPP / CD1 / USH1 / UK / (Hutchin et al. 2005)
c.5601delAAC / p.1867delT / CD1 / USH1 / Eur, AA / (Zheng et al. 2005)

Pak, Pakistan; Ind, India; Eur, European; AA, African American; Ask, Ashkenazi Jew; Hut, Hutterite; Fr, French; EC, ectodomain; SP, signal petide; TM, transmembrane domain; CD1, cytoplasmic domain 1; Nter, NH2 terminus.

a Patients are of European ancestry.

b Located in sequence between the two EC domains.

c Located in sequence between EC11 and transmembrane domain.