TABLE 1

Pathogenetic mutations

Exon	Sequence involved	Defect	First author [ref.]
1–13	195 kb deletion	Truncation without synthesis (deletion)	Stokman [15]
1	c.-6773_-6588del	Truncation without synthesis (deletion)	Corut [9]
2–6	5.5 kb deletion	Truncation (deletion)	Ishihara [16]
2	insT (not specified area)	Truncation (frameshift)	Dogan [17]
3	c.114delA	Truncation (deletion)	Corut [9]
3	c.212_224del	Truncation (deletion)	Vismara [18]
3	c.226 C>T	Substitution	Corut [9]
4	c.316 G>A	Substitution (missense)	Jonsson [19]
5	c.IVS4+1452_IVS5+660del	Truncation (deletion) of entire exon 5	Dandan [20]
6	c.560 G>A	Substitution (missense)	Jonsson [19]
6	c.575 C>A	Substitution	Ma [21]
7	c.560 G>A	Substitution (nonsense)	Jonsson [19]
7	insdel857-871	Insertion/deletion with truncation	Huqun [8]
8	IVS8+1 G>A	Truncation by splicing failure	Huqun [8]
8	c.906 G>A	Substitution (nonsense)	Jonsson [19]
8	c.910 A>T	Truncation	Zhong [22]
10	c.1136 G>A	Substitution (missense)	Jonsson [19]
11	c.1238 G>A	Substitution (nonsense)	Jonsson [19]
11	c.1327delC	Truncation (deletion)	Jonsson [19]
11	c.1328delT	Truncation (deletion)	Corut [9]
12	c.1333+1 G>A	Substitution (nonsense, frameshift splicing)	Jonsson [19]
12	c.1342delG	Truncation (deletion)	Corut [9]
12	c.1363 T>C	Substitution	Wang [23]
12	c.1390 G>C	Unclear result	Izumi [24]
12	c.1393-1404delACC	Truncation, threonine deletion	Jonsson [25]
12	c.1402-1404delACC	Truncation, threonine deletion	Jonsson [25]
12	c.1456 C>T	Truncation	Proesmans [26]