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. Author manuscript; available in PMC: 2017 Oct 1.
Published in final edited form as: Nat Genet. 2017 Feb 13;49(4):537–549. doi: 10.1038/ng.3790

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.

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