Table 2. .
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 |