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. 2006 Sep 8;79(5):807–819. doi: 10.1086/508294

Table 2. .

TMEM76 Predicted Mutations in Probands from 30 Families with MPS IIIC

Patient Group and Mutation 1 Mutation 2 No. of Patients Geographic Origin
of Patient(s)
Patients from Czech families:
 p.I373SfsX3 p.R534X 1 Czech Republic
 p.L349X p.M510K 1 Czech Republic
 p.F313X p.R412X 1 Czech Republic
 p.R372H p.P599L 1 Czech Republic
Patients homozygous for TMEM76 mutations:
 p.[D68VfsX19; P265Q] p.[D68VfsX19; P265Q] 3 Morocco, Morocco, and Spain
 p.[P193HfsX20; K551Q] p.[P193HfsX20; K551Q] 1 France
 p.P311L p.P311L 1 United Kingdom
 p.W344X p.W344X 1 France
 p.R372C p.R372C 1 United Kingdom
 p.R412X p.R412X 2 Turkey and Poland
 p.[W431C; A643T] p.[W431C; A643T] 1 France
 p.G452S p.G452S 1 Canada
 p.E499K p.E499K 1 Canada
 p.S567NfsX14 p.S567NfsX14 1 Turkey
Patients compound heterozygous for TMEM76 mutations:
 p.C104F 1 Belarus
 p.E499K p.D590V 1 France
 p.P193HfsX20 p.R412X 1 Canada
 p.P311L p.R372C 1 France
 p.R412X 1 Poland
 p.R412X p.G446X 1 Poland
 p.S569L 2 France and Portugal
 p.S569L p.L69EfsX32 1 United States
 p.V488GfsX22 p.S569L 1 Poland
 p.V612SfsX16 1 Finland
Families with no mutations identified to date 2 North Africa and Portugal