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Table 2 Patients carrying CRB1 mutations identified in this study

From: High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

Family

  

Allele 1

  

Allele 2

References

Methods

Phenotype

 

Exon

Nucleotide Change

AA Change

Exon

Nucleotide Change

AA Change

   

LCA-0010

2

c.481dupG

p.Ala161Glyfs*8

2

c.481dupG

p.Ala161Glyfs*8

[5]

chip

LCA

RP-0091

2

c.481dupG

p.Ala161Glyfs*8

 

?

?

[5]

chip + seq

EORP

RP-1426

2

c.498_506del

p.Ile167_Gly169del

2

c.498_506del

p.Ile167_Gly169del

[21]

seq

EORP

RP-1611

2

c.498_506del

p.Ile167_Gly169del

5

c.1147_1156del

p.Cys383Serfs*66

[21], Novel

chip + seq

EORP

RP-2004

2

c.498_506del

p.Ile167_Gly169del

7

c.2234C > T

p.Thr745Met

[21][1]

chip + seq

EORP

RP-0745

2

c.498_506del

p.Ile167_Gly169del

7

c.2290C > T

p.Arg764Cys

[21][1]

chip + HRM

EORP

RP-0243

2

c.498_506del

p.Ile167_Gly169del

8

c.2688 T > A

p.Cys896*

[21][22]

chip + dHPLC

EORP

MD-0092b

2

c.498_506del

p.Ile167_Gly169del

9

c.2843G > A

p.Cys948Tyr

[21][1]

chip + HRM

EORP

LCA-0019

2

c.613_619del

p.Ile205Aspfs*13

7

c.2227delG

p.Val743Serfs*11

[2][23]

chip + dHPLC

EORP

LCA-0051

2

c.613_619del

p.Ile205Aspfs*13

9

c.2843G > A

p.Cys948Tyr

[2][1]

chip

EORP

LCA-0063

2

c.613_619del

p.Ile205Aspfs*13

11

c.4005 + 1G > A

Splicing

[2][22]

chip

EORP

RP-1311

2

c.613_619del

p.Ile205Aspfs*13

 

?

?

[2]

chip + seq

EORP

LCA-0032

6

c.1604 T > C

p.Leu535Pro

9

c.2843G > A

p.Cys948Tyr

[15][1]

chip + seq

LCA

LCA-0099

6

c.1690G > T

p.Asp564Tyr

8

c.2688 T > A

p.Cys896*

[15][22]

chip

LCA

LCA-0038b

6

c.1690G > T

p.Asp564Tyr

9

c.3002 T > A

p.Ile1001Asn

[15]

seq

EORP

RP-1535

6

c.1690G > T

p.Asp564Tyr

9

c.3014A > T

p.Asp1005Val

[15], Novel

chip + seq

EORP

RP-1504

6

c.1702C > T

p.His568Tyr

12

c.4142C > T

p.Pro1381Leu

Novel [6]

HRM + seq

EORP

RP-1586

7

c.2234C > T

p.Thr745Met

7

c.2234C > T

p.Thr745Met

[1]

chip

EORP

RP-1017

7

c.2234C > T

p.Thr745Met

7

c.2416G > T

p.Glu806*

[1] Novel

chip + seq

EORP

MD-0643

7

c.2234C > T

p.Thr745Met

9

c.2843G > A

p.Cys948Tyr

[1]

chip

EORP

RP-0561

7

c.2234C > T

p.Thr745Met

11

c.3988G > T

p.Glu1330*

[1][24]

chip + dHPLC

EORP

LCA-0011

7

c.2244_47delATC

p.Ser749del

9

c.2843G > A

p.Cys948Tyr

[5][1]

chip

LCA

RP-1779

7

c.2290C > T

p.Arg764Cys

9

c.3299 T > C

p.Ile1100Thr

[1][5]

chip

EORP

RP-0487

7

c.2290C > T

p.Arg764Cys

11

c.3988G > T

p.Glu1330*

[1][24]

chip + dHPLC

EORP

RP-1689

7

c.2291G > A

p.Arg764His

12

c.4168C > T

p.Arg1390*

Novel

seq

EORP

LCA-0060

7

c.2309G > T

p.Gly770Val

8

c.2805dupA

p.His935Glnfs*13

Novel

HRM

LCA

LCA-0017

7

c.2401A > T

p.Lys801*

7

c.2401A > T

p.Lys801*

[4]

IBD mapping

LCA

RP-0280

7

c.2465G > A

p.Trp822*

9

c.2843G > A

p.Cys948Tyr

[15][1]

chip + dHPLC

EORP

LCA-0004

8

c.2688 T > A

p.Cys896*

9

c.2843G > A

p.Cys948Tyr

[22][1]

chip

LCA

LCA-0038a

8

c.2688 T > A

p.Cys896*

9

c.3002 T > A

p.Ile1001Asn

[22][15]

chip + dHPLC

LCA

LCA-0050

9

c.2843G > A

p.Cys948Tyr

9

c.2843G > A

p.Cys948Tyr

[1]

chip

LCA

RP-0069a

9

c.2843G > A

p.Cys948Tyr

9

c.2843G > A

p.Cys948Tyr

[1]

SSCP

LCA

MD-0092a

9

c.2843G > A

p.Cys948Tyr

9

c.2843G > A

p.Cys948Tyr

[1]

chip

EORP

MD-0351

9

c.2843G > A

p.Cys948Tyr

9

c.3157 A > G

p.Met1053Val

[1] Novel

chip + HRM

EORP

RP-1625

9

c.2843G > A

p.Cys948Tyr

9

c.3157A > G

p.Met1053Val

[1] Novel

chip + HRM

EORP

LCA-0028

9

c.2843G > A

p.Cys948Tyr

9

c.3299 T > C

p.Ile1100Thr

[1][5]

chip

LCA

RP-1558

9

c.2843G > A

p.Cys948Tyr

9

c.3607G > T

p.Glu1203*

[1] Novel

chip + seq

EORP

LCA-0027

9

c.2843G > A

p.Cys948Tyr

11

c.3988G > T

p.Glu1330*

[1][24]

chip + seq

LCA

LCA-0038c

9

c.3002 T > A

p.Ile1001Asn

9

c.3482A > G

p.Tyr1161Cys

[15] [25]

seq

EORP

LCA-0101

9

c.3152G > A

p.Trp1051*

11

c.4000delG

p.Val1334Trpfs*7

Novel

seq

LCA

RP-0069b

9

c.3299 T > C

p.Ile1100Thr

9

c.2843G > A

p.Cys948Tyr

[5][1]

SSCP

EORP

RP-0025

9

c.3299 T > C

p.Ile1100Thr

9

c.3299 T > C

p.Ile1100Thr

[5]

chip

EORP

RP-1212

9

c.3299 T > C

p.Ile1100Thr

9

c.3299 T > C

p.Ile1100Thr

[5]

chip

EORP

RP-1615

9

c.3299 T > C

p.Ile1100Thr

9

c.3749 + 1_3749 + 2delGT

Splicing

[5] Novel

chip + seq

EORP

RP-1440

10

c.3878 + 2insT a

Splicing

8

c.2696G > C

p.Gly899Ala

Novel

chip + HRM

EORP

  1. Mutations in bold correspond to variants first described in our cohort. Nucleotide numbering reflects cDNA in the reference sequence NM_201253.1, according to journal guidelines (http://www.hgvs.org/mutnomen). The initiation codon is codon 1. Different molecular approaches were used to identify both pathogenic alleles. C: APEX microarray, S: Sanger sequencing, D: dHPLC, denaturing high-performance liquid chromatography analysis, H, HRM: high-resolution melting analysis, IBD: Inherited-by-descent mapping, performing using whole-genome SNP arrays; ?: Second allele not found after Sanger sequencing and MLPA analysis;
  2. a Unexpected signal on APEX array was detected at the interrogated nucleotide c.3878 + 2 further confirming as a novel heterozygous insertion by Sanger sequencing.
  3. &T allele is paternally inherited and c.2805insA is a de novo mutation.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172