Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population

Table 1

Mutations of BEST1 genetic testing results¹.

Patient Number	Position	Nucleotide Change	Amino Acid Change	Mutation Type	Novel	Phenotype	Disease Reported	Population Frequency
1	Exon 6	c.665G>T	G222V	Missense	No	BVMD	LCA	absent
2	Exon 7	c.763C>T	R255W	Missense	No	BVMD	BVMD	0.0000505
	Exon 5	c.584C>T	A195V	Missense	No		BVMD; ARB	0.0002381
3	Exon 4	c.424A>G	S142G	Missense	Yes	BVMD	-	absent
4	Exon 8	c.903T>G	D301E	Missense	No	BVMD	BVMD	absent
5	Exon 4	c.436G>A	A146T	Missense	Yes	ARB	-	absent
	Exon 2	c.140G>A	R47H	Missense	No		AVMD	0.00001626
	3 prime UTR	c.24C>T	-	Splicing	No		Not provided	0.0002208
6	Exon 4	c.427G>T	V143F	Missense	No	BVMD	AVMD	absent
7	Exon 5	c.488T>G	M163R	Missense	No	ARB	ARB	absent
	Exon 5	c.584C>T	A195V	Missense	No		BVMD	0.0002381
8	Exon 6	c.653G>A	R218H	Missense	No	BVMD	BVMD	0.00001218
9	Exon 4	c.274C>T	R92C	Missense	No	BVMD	BVMD	absent
10	Exon 4	c.427G>T	V143F	Missense	No	BVMD	AVMD	absent
11	Exon 2	c.102C>T	G34G	Synonymous	No	ARB	ARB	0.00001627
	Exon 3	c.155T>C	L52P	Missense	Yes		-	absent
12	Exon 2	c.38G>A	R13H	Missense	No	BVMD	BVMD	0.00001445

NM_004183.3.UTR: untranslated region. Blank section means no data available. LCA: leber congenital amaurosis. BVMD: best vitelliform macular dystrophy. AVMD: adult vitelliform macular dystrophy. ARB: autosomal recessive bestrophinopathy.Population frequency was acquired in gnomAD database.