Table 2.

Spectrum of mutations in the BEST1 gene in a group of 31 patients affected by BVMD – Best vitelliform macular dystrophy and ARB – autosomal dominant bestrophinopathy.

Family ID and number of patient	Phenotype	Allele 1	Reference (PMID)#	Allele 2	Reference (PMID)	Segregation analysis
Putative dominant cases
MDS309	BVMD stage 1	c.37C>G;p.R13G	This study	–		n.d.
MB72	BVMD stage 4	c.44G>A;p.G15D	20057903	–		yes
MB46 (patients 1–3)	BVMD stage 4	c.72G>T;p.W24C	9700209	–		yes
MB28	BVMD stage 2	c.89A>G;p.K30R	10798642	–		n.d.
MB6 (patients 1–4)	BVMD 7 eyes stage 5, 1 eye stage 3	c.652C>T;p.R218C	9700209	–		yes
MB48 (patients 1–4)	BVMD 4 eyes stage 5, 3 eyes stage 4	c.703G>T;p.V235L	11241846	–		yes
MB88	BVMD stage 2	c.728C>T;p.A243V	10737974	–		n.d.
MB31	BVMD stage 2	c.728C>T;p.A243V	10737974	–		n.d.
MB27	BVMD stage 5	c.728C>T;p.A243V	10737974	–		n.d.
MDS122	BVMD 1 eye stage 3, 1 eye stage 5	c.884T>C;p.I295T	12187431	–		yes
MB38 (patients 1 + 2)	BVMD 3 eyes stage 5, 1 eye stage 4	c.884T>C;p.I295T	12187431	–		yes
MB19	BVMD stage 3	c.884_886del; p.I295del	9700209	–		yes
MB86	BVMD stage 5	c.884_886del; p.I295del	9700209	–		n.d.
MB91	BVMD stage 4	c.884_886del; p.l295del	9700209	–		n.d.
MB74	BVMD stage 1	c.932T>G;p.V311G	10737974	–		n.d.
Putative recessive cases
MB92	ARB	c.397A>C; p.N133H	21273940	c.712del; p.Q238Rfs*3	this study	yes
MB80	ARB	c.400C>G;p.L134V	17287362	c.400C>G;p.L134V	17287362	yes
MB83	ARB	c.422G>A; p.R141H	10854112	c.422G>A; p.R141H	10854112	n.d.
MB64	BVMD stage 3	c.584C>T;p.A195V	10798642	c.934G>A; p.D312N	10854112	n.d.
MDS290	ARB	c.779del; p.P260Qfs*29	14517959	c.779del; p.P260Qfs*29	14517959	n.d.
MB93	ARB	c.889C>T;p.P297S	10453731	c.1315C>T; p.Q439*	this study	n.d.
Unclear inheritance
MB70	BVMD 1 eye stage 1, 1 eye stage 2	c.422G>A; p.R141H	10854112			n.d.

^#If multiple references are known, only the first description is given.

Other abbreviations: PMID – PubMed Unique Identifier, n.d. – not done.