Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases

Table 1

BEST1 mutations of genetic testing results.

Family	Patient no.	Position	Nucleotide change	Amino acid change	Zygosity	Mutation type	SNP ID	Reported clinical significance/reported phenotype (based on ClinVar)	Associated disease in publications
1	11	Exon 2	c.37 C > T	p.R13 C	Homo	Missense	rs886041141	Not provided/—	BVMD (Ref. [21])
2	7	Exon 2	c.102 C > T	p.Gly34 =	Homo	Synonymous	rs771898125	Likely pathogenic/—	ARB (Ref. [22])
2	22	Exon 2	c.102 C > T	p.Gly34 =	Homo	Synonymous	rs771898125	Likely pathogenic/—	ARB (Ref. [22])
3	17	Exon 4	c.287_298del	p.Gln96_Asn99del	Homo	In-frame deletion	rs1555099048	Likely pathogenic/RP	—
4	23	Exon 4	c.302 C > T	p.Pro101Leu	Homo	Missense	rs374517178	Not provided/—	Autosomal recessive retinal dystrophy (Ref. [23])
5	24	Exon 4	c.404 G > A	p.Gly135Asp	Homo	Missense	rs1159966472	Not provided/—	—
6	4	Exon 4	c.404 G > A	p.Gly135Asp	Homo	Missense	rs1159966472	Not provided/—	—
7	21	Exon 8	c.889 C > T	p.Pro297Ser	Homo	Missense	rs1805143	Likely pathogenic/BVMD	—
7	20	Exon 8	c.889 C > T	p.Pro297Ser	Homo	Missense	rs1805143	Likely pathogenic/BVMD	—
8	19	Exon 9	c.956 T > C	p.Leu319Pro	Homo	Missense	rs1554963305	Pathogenic/ARB	—
8	18	Exon 9	c.956 T > C	p.Leu319Pro	Homo	Missense	rs1554963305	Pathogenic/ARB	—

ARB: autosomal recessive bestrophinopathy; BVMD: best vitelliform macular dystrophy. Reference number for the publication.