Table 1.
Biallelic DONSON mutations identified in 29 individuals
| Patient | Country of Origin | Mutation 1 | Mutation 2 | Segregation |
|---|---|---|---|---|
| P1-1 | Italy | c.1251_1256delCTCTAA, p.Asn417_Ser418del | haplotype | Het, M |
| P1-2 | Italy | c.1251_1256delCTCTAA, p.Asn417_Ser418del | haplotype | Het, M |
| P2 | UK | c.877C>T, p.Arg293* | haplotype | Het, M, P |
| P3 | UK | c.1254dupT, p.Lys419* | haplotype | Het, M, P |
| P4 | UK | c.1686dupT, p.Asn563* | haplotype | Het, nps |
| P5 | Somalia | c.832T>C, p.Cys278Arg AND/OR c.845A>G, p.Tyr282Cys | haplotype | Het, M, P |
| P6 | USA | c.1282C>T, p.Gln428* | haplotype | Het, M, P |
| P7 | USA | c.1282C>T, p.Gln428* | haplotype | Het, nps |
| P8 | Italy | c.1474_1475delCA, p.Gln492Glufs*18 | c.786-7T>C | Het, M, P |
| P9 | Turkey | c.876C>G, p.Phe292Leu | c.1047-9A>G (SS) | Het, M |
| P10-1 | India | c.1628_1630dupAAA, p.Gln543_Ile544insLys | c.1032C>T, p.Ser344Ser (SS) | Het, M, P |
| P10-2 | India | c.1628_1630dupAAA, p.Gln543_Ile544insLys | c.1032C>T, p.Ser344Ser (SS) | Het, M, P |
| P11 | Saudi Arabia | c.786-22A>G (SS) | c.786-22A>G (SS) | Hom, M, P |
| P12 | Saudi Arabia | c.786-22A>G (SS) | c.786-22A>G (SS) | Hom, nps |
| P13-1 | Palestine | c.1337T>C, p.Met446Thr | c.1337T>C, p.Met446Thr | Hom, M, P |
| P13-2 | Palestine | c.1337T>C, p.Met446Thr | c.1337T>C, p.Met446Thr | Hom, M, P |
| P13-3 | Palestine | c.1337T>C, p.Met446Thr | c.1337T>C, p.Met446Thr | Hom, M, P |
| P14 | Saudi Arabia | c.786-22A>G (SS) | c.786-22A>G (SS) | Hom, M, P |
| P15 | Saudi Arabia | c.786-22A>G (SS) | c.786-22A>G (SS) | Hom, M, P |
| P16 | Saudi Arabia | c.786-22A>G (SS) | c.786-22A>G (SS) | Hom, M, P |
| P17 | Saudi Arabia | c.786-22A>G (SS) | c.786-22A>G (SS) | Hom, M, P |
| P18-1 | Saudi Arabia | c.786-22A>G (SS) | c.786-22A>G (SS) | Hom, M, P |
| P18-2 | Saudi Arabia | c.786-22A>G (SS) | c.786-22A>G (SS) | Hom, M, P |
| P18-3 | Saudi Arabia | c.786-22A>G (SS) | c.786-22A>G (SS) | Hom, M, P |
| P19 | Turkey | c.1297C>T, p.Pro433Ser | c.1297C>T, p.Pro433Ser | Hom, M, P |
| P20-1 | South Africa | c.1254dupT, p.Lys419* | c.1510G>A, p.Glu504Lys | Het, M, P |
| P20-2 | South Africa | c.1254dupT, p.Lys419* | c.1510G>A, p.Glu504Lys | Het, M, P |
| P21-1 | Saudi Arabia | c.1047-9A>G (SS) | c.1047-9A>G (SS) | Hom, M, P |
| P21-2 | Saudi Arabia | c.1047-9A>G (SS) | c.1047-9A>G (SS) | Hom, M, P |
‘Haplotype’ indicates the presence of three co-segregating variants: c.82A>C (p.Ser28Arg); c.786-33A>G; c.1466A>C (p.Lys489Thr). Hom, homozygous in affected individual; Het, compound heterozygous in affected individual; M, mutation identified in mother; P, mutation identified in father; nps, no parental samples available; SS, Splice site mutation. Reference sequence, NM_017613.3.