Table 2 Associations between genotype subgroups and phenotype subgroups in 13 families with CRX-RD.

From: Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

 

Genotype subgroup A (heterozygous missense)

Genotype subgroup B (homozygous missense)

Genotype subgroup C (heterozygous truncating)

Total

Phenotype subgroup A (MD)

1

0

0

1

Phenotype subgroup B (CORD)

7

0

2

9

Phenotype subgroup C (RP)

0

2

1

3

Total

8

2

3

13

  1. Genotypic subgroup classification was performed based on the heterozygous/homozygous status of missense variants and presence of null variants (stop, frame shift, and splice site alteration): Genotype A–subjects with heterozygous missense variants; Genotype B–subjects with homozygous missense; and Genotype C–subjects with heterozygous truncating variants.
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