Table 3 Summary of reported mutations in HSF4 associated with congenital cataracts
From: Novel mutations in HSF4 cause congenital cataracts in Chinese families
Exon/Intron | DNAChange | CodingChange | Inheritance | Origin | Reference |
|---|---|---|---|---|---|
Ex3 | c.56C > A | p.A19D | AD | China | Bu et al. 2002[18]; ClinVar |
Ex3 | c.69G > T | p.K23 N | AD | China | Lv et al. 2014[19] |
Ex3 | c.89delA | p.D30Afs | / | US | ClinVar |
Ex4 | c.187 T > C | p.F63 L | AD | China | This study |
Ex4 | c.218G > A | p.R73H | AD | China | Ke et al. 2006[20] |
Ex4 | c.218G > T | p.R73L | AD | China | This study |
IVS5 | c.233-1G > A | / | AD | China | This study |
Ex5 | c.233A > G | p.Y78C | AD | China | This study |
Ex5 | c.256A > G | p.I86V | AD | China | Bu et al. 2002[18]; ClinVar |
Ex5 | c.314G > C | p.S105 T | AD | China | This study |
Ex5 | c.341 T > C | p.L114P | AD | China | Bu et al. 2002[18]; Clinvar |
Ex5 | c.341 T > C | p.L114P | AD | Denmark | Hansen et al. 2009[21] |
Ex5 | c.355C > T | p.R119C | AD | Denmark | Bu et al. 2002[18]; ClinVar |
Ex5 | c.355C > T | p.R119C | AD | Denmark | Hansen et al. 2009[21] |
Ex7 | c.524G > C | p.R175P | AR | Pakistan | Forshew et al. 2005[22] |
Ex8 | c.595-599del5bp | p.G199EfsX15 | AR | Pakistan | Forshew et al. 2005[22] |
IVS11 | c.1165-2A > G | / | / | US | ClinVar |
Ex12 | c.1213C > T | p.R405X | AR | Pakistan | Sajjad et al. 2008[23] |
IVS12 | c.1327 + 4A > G | p.M419GfsX29(delEx14) | AR | Tunisia | Smaoui et al. 2004[24] |