Table 1 Clinical features of CS patients with compound heterozygosity involving the founder variant and other pathogenic variants in ERCC8.
From: A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8
Country, Reference | Patient ID | Pathogenic variant (variant on an allele different from the allele with founder variant in ERCC8) | Protein alteration | Age at onset | Growth failure | Intellectual disability (severe/mild) | Microcephaly | Clinical classification |
|---|---|---|---|---|---|---|---|---|
China, Hua et al.17 | II:6 | c.618-2A>G splicing variant (leads to an in-frame deletion of 9 bp in exon 8) | Loss of three amino acids | 0 m | + | S | + | I |
II:10 | ? | + | − | + | I | |||
Singapore, Ting et al.18 | – | deletion of 277 kbp at 5q12.1 (The deletion includes the whole ERCC8 and the first two exons of the NDUFAF2) | p.? | 2 y | + | S | + | I |
China, Wang et al.19 | CS 01 | c.394_398delTTACA | p.L132NfsX6 | 12 m | + | S | + | ? |
CA 06 | c.299insA | p.Y100X | 8 m | + | S | + | ? | |
CA 21 | c.843+2T>C | p.? | 6 m | + | M | + | ? | |
CA 11 | c.2T>A | p.M1? | ? | ? | ? | ? | ? | |
Japan, Sugita et al.16 Calmels et al.8 | CCS 4 | c.2T>A | p.M1? | 5 y | + | M | + | III? |
This case | − | c.1A>T | p.M1? | 3 y | + | M | − | III |
