Table 2.
Summary of previously reported cases with mosaic variants in CREBBP.
| Study | Case | CREBBP variant in the proband | CREBBP variant in one of the parents | Mosaic ratio | Detection method | Somatic mosaicism | Germline mosaicism | Clinical findings in cases with (assumed) mosaicism | Familial or recurrent RSTS |
|---|---|---|---|---|---|---|---|---|---|
| Gervasini et al. (2007) | case 38 | mos deletion | unk | peripheral blood (30%) buccal mucosa (unk) | FISH | + | unk | RSTS | unk |
| case 40 | mos deletion | unk | peripheral blood (20%) buccal mucosa (17%) | FISH | + | unk | RSTS | unk | |
| case 66 | mos deletion | unk | peripheral blood (22%) buccal mucosa (21%) | FISH | + | unk | RSTS | unk | |
| Chiang et al. (2009) | family 1- one of the parents | 6122-6125delCCAT | - | peripheral blood (0) buccal mucosa (0) | Sanger | – | assumed | broad great toes in the father | + |
| family 2-father | c.4078C>T (p.Arg1360*) | mos c.4078C>T (p.Arg1360*) | peripheral blood (ND) buccal mucosa (ND) | Sanger | ND | assumed | broad great toes | – | |
| Bartsch et al. (2010) | family 2-father | c.4134G>T (p.Arg>Arg) | mos c.4134G>T (p.Arg>Arg) | peripheral blood (38%) buccal mucosa (31%) | Sanger and Pyrosequencing | + | assumed | broad thumbs and great toes | + |
| Tajir et al. (2013) | one of the parents | c.4361T>A (p.Leu1454His) | - | peripheral blood (0) buccal mucosa (0) | Sanger | – | assumed | - | + |
| De Vries et al. (2016) | one of the parents | mos c.5039_5041delCCT (p.Ser1680del) | - | peripheral blood (0) buccal mucosa (ND) | Sanger, RELP and WES | + | unk | RSTS and Filippi syndrome | – |
| Current study | mother | c.3235C>T (p.Gln1079*) | mos c.3235C>T (p.Gln1079*) | peripheral blood (3.64%) buccal mucosa (1.94%) | high-depth NGS | + | assumed | RSTS | + |
mos, mosaic; unk, unknown; ND, not determined; FISH, fluorescence in situ hybridization; RELP, restriction fragment length polymorphism analysis; WES, whole-exome sequencing; NGS, next-generation sequencing.