Table 2.

List of small mutations detected in the course of the study

Exon	Nucleotide change	Codon	Aminoacid change	Number of families
1	c.157_158dupG [16]	53	p.Asp53Glyfsx110	1
	c.160_161insC*	54	p.Leu54ProfsX109	1
	c.178delT*	60	p.Tyr60ThrfsX 4	1
	c.180C > G [17]	60	p.Tyr60X	1
2	c.291-1G > C [18]		Splice site mutation	1
4	c.474delT*	158	p.Cys158CysfsX3	1
	c.481A > T*	161	p.Ile161Phe	1
	c.488G > A [19]	163	p.Gly163Asp	1
	c.493G > T [19]	165	p.Glu165X	1
	580G > A [20]	194	p.Asp194Asn	3
5	c.733C > T*	245	p.Leu245Phe	1
6	c.735-10C > A [19]		Possible splice site mutation	1
	c.790_793delTTTG [21]	264	p.Phe264ArgfsX22	1
7	c.876C > G [22]	292	p.Tyr292X	2
	c.867_882delGCTTGAGTACGAACCG*	289	p.Met289MetfsX42	1
	c.910delC [19]	304	p.Arg304GlyfsX32	2
8	c.921-4_921-2delGCA*		Splice site mutation	1
	c.1010_1011delTG [23]	337	p.Val337GlyfsX22	1

*novel mutation.