Table 2. Summary of ALMS1 genotypes detected with the BBS–ALMS1 mutation array, excluding polymorphisms.

Genes	Mutation 1	Mutation 2	Number of BBS families	Number of ALMS families
ALMS1 (n=32)	c.10775delC [p.T3592KfsX6]	c.11449C>T [p.Q3817X]	1
	c.6800T>A [p.L2276X]	c.6800T>A [p.L2276X]		1
	c.8177_8187delGCATTTCC [p.C2726FfsX5]	c.8177_8187delGCATTTCC [p.C2726FfsX5]		2a
	c.1769T>A [p.L590X]	c.3425C>G [p.S1142X]		1
	c.7534C>T [p.R2512X]	c.7534C>T [p.R2512X]		1
	c.8782C>T [p.R2928X]	c.8782C>T [p.R2928X]		1a
	c.9541C>T [p.R3181X]	c.10483C>T [p.Q3495X]		1
	c.5574_5575delTG [p.V1859HfsX4]	c.7574_7587delATTGTGGATACTCC [p.C2526FfsX5]		1a
	c.7374_7375delAG [p.D2459X]	c.7374_7375delAG [p.D2459X]		1
	c.8224C>T [Q2742X]	c.8224C>T [Q2742X]		1a
	c.10945G>T [p.E3649X]	c.10945G>T [p.E3649X]		1a
	c.7534C>T [p.R2512X]	c.10775delC [p.T3592KfsX6]		1
	c.7942C>T [p.Q2648X]			1a
	c.11005C>T [p.Q3669X]			1
	c.8164C>T [p.R2722X]			1
	c.8656C>T [p.R2886X]			1
	c.10775delC [p.T3592KfsX6]			1
	c.10535G>A [p.W3512X]			1
	c.11316_11319delAGAG [E3773WfsX18]			3
	c.11385delT [p.F3795LfsX38]			1
	c.8177_8187delGCATTTCC [p.C2726FfsX5]			1
	c.7534C>T [p.R2512X]			1
	c.11460C>G [p.Y3820X]			1
	c.7374_7375delAG [p.D2459X]			1
	c.10483C>T [p.Q3495X]			1
	c.11414delG [R3805fsX28]b			1
	c.8782C>T [R2928X]			1
	c.9194T>G [L3065X]			1
	c.10753C>T [Q3585X]			1
Total (n=32)			1	31

Abbreviations: ALMS, Alström syndrome; BBS, Bardet–Biedl syndrome.

^aNon-European family.

^bThis ALMS1 mutation has not been published.