Table 2.

Results of genetic analysis in this family

Patient	Mutation	Exon/intron	Protein	Molecular consequence	Results	Ref.
II:2, II:4 and II:5	c.1263+1G>A	IVS7	-	Splice site mutation	Pathogenic	Shiga et al[20]
II:1,II:3 and II:4	c.435G>T	Exon 2	p.G145G	Splice site mutation	Pathogenic	Chen et al[19] (in homozygous state)