Table 2.
Summary of the molecular findings on the entire BCS cohort described clinically by Al-Hussain et al. [1]. This includes mutations in both ZNF469 and PRDM5. Six novel ZNF469 homozygous mutations and one heterozygous SNP (reported in italics) are shown. Additionally, the two homozygous ZNF469 mutations (#) as well as the three homozygous PRDM5 mutations(§) reported previously [7] are given for completeness. Only patient 912_11 does not have a mutation in either ZNF469 or PRDM5, suggesting further genetic heterogeneity in BCS.
| Patient Nr. | ZNF469 | PRDM5 | ||
|---|---|---|---|---|
| 901_04 | c.93 + 1G>A§ | Aberrant splicing§ | ||
| 902_03 | c.7508C>A | p.Arg2478Glu | c.320A>G§ | p.Tyr107Cys§ |
| 903_03 | c.6647delA | p.Gln2216Argfs*19 | ||
| 903_04 | c.6647delA | p.Gln2216Argfs*19 | ||
| 904_03 | c.8901_8914dup | p.Glu2972Glyfs*50 | ||
| 904_04 | c.8901_8914dup | p.Glu2972Glyfs*50 | ||
| 904_08 | c.8901_8914dup | p.Glu2972Glyfs*50 | ||
| 908_04 | c.3304G>T | p.Glu1102* | ||
| 909_06 | c.5353C>T# | p.Gln1785*# | ||
| 909_07 | c.5353C>T | p.Gln1785* | ||
| 910_03 | c.2029G>T | p.Gly677* | ||
| 910_05 | c.2029G>T | p.Gly677* | ||
| 912_11 | No mutation | No mutation | ||
| 914_04 | c.7508C>A | p.Arg2478Glu | c.1517–1527delTTCATATCCGG§ | p.Val506Glufs*5§ |
| 914_06 | c.7508C>A | p.Arg2478Glu | c.1517–1527delTTCATATCCGG§ | p.Val506Glufs*5§ |
| 915_06 | c.2150delT | p.Phe717Serfs*15 | ||
| 915_07 | c.2150delT# | p.Phe717Serfs*15# | ||
| 916_03 | c.9483delG | p.His3162Thrfs*20 | ||
| 917_09 | c.5353C>T | p.Gln1785* | ||
| 918_06 | c.10106G>C | p.Arg3369Pro | ||