Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

Table 1 **Genotypes of probands identified with USH2A deletions/duplications and c.7595-2144A>G p.(Lys2532Thrfs*56)**

Family	Diagnosis	Gene	Allele 1^a	Allele 1 predicted	Allele 2^b	Allele 2 predicted	Pathogenicity	Pathogenicity	Ethnicity^c
Family	Diagnosis	Gene	Allele 1^a	protein change^a	Allele 2^b	protein change^b	allele 1^a	allele 2^b	Ethnicity^c
46	USH2	USH2A	c.6862G>T	p.(Glu2288*)	exon 40 deleted c.7452-68_7594+942del	*p.(Leu2485Thrfs25)**	Pathogenic	Pathogenic	Caucasian
148	USH2	USH2A	c.2299delG	p.(Glu767Serfs*21)	exon 27 deleted c.[5299-932_5572+1023del; 5572+1100_5573-1099del]	*p.(Met1767Valfs6)**	Pathogenic	Pathogenic	Caucasian
151	USH2	USH2A	c.3187_3188delCA	p.(Gln1063Serfs*15)	exon 22–23 deleted c.4628-15914_4885+472del	p.(Ile1544_Gly1629del)	Pathogenic	Pathogenic	Caucasian
309	USH2	USH2A	c.2299delG	p.(Glu767Serfs*21)	exon 4 deleted c.781_784+1375del	p.?	Pathogenic	Pathogenic	Caucasian
657	USH2	USH2A	c.187C>T	p.(Arg63*)	exon 70 deleted c.15053-26_15298-708del	*p.(Leu5019Valfs77)**	Pathogenic	Pathogenic	Caucasian
283	USH2	USH2A	c.2299delG	p.(Glu767Serfs*21)	exons 4–13 duplicated	p.?	Pathogenic	Pathogenic	Caucasian
24	USH2	USH2A	c.2299delG	p.(Glu767Serfs*21)	c.7595-2144A>G	p.(Lys2532Thrfs*56)	Pathogenic	Pathogenic	Caucasian
707	USH2	USH2A	c.2299delG	p.(Glu767Serfs*21)	c.7595-2144A>G	p.(Lys2532Thrfs*56)	Pathogenic	Pathogenic	Caucasian
128	Atypical Usher	USH2A	Unknown	Unknown	c.7595-2144A>G	p.(Lys2532Thrfs*56)	Pathogenic

Variants in bold are novel mutations, identified in this study.
^a All allele 1 variants have been previously published in these individuals [7].
^b All allele 2 variants were identified in this study by USH2A MLPA or sequencing for USH2A: c.7595-2144A>G.
^c Caucasian represents UK and European.

ISSN: 1750-1172