ABCMdb

PMID: 11923272

Scholl HP, Besch D, Vonthein R, Weber BH, Apfelstedt-Sylla E
Alterations of slow and fast rod ERG signals in patients with molecularly confirmed Stargardt disease type 1.
Invest Ophthalmol Vis Sci. 2002 Apr;43(4):1248-56., [PubMed]

Sentences

No. Mutations Sentence Comment

88 ABCA4 p.Gln1412* ABCA4 p.Gln1750* Five patients (numbers 15, 18, 19, 26, 27) were shown to have a 2588G3C splice mutation in one allele in combination with a nonsense (Q1412X or Q1750X) or a splice (IVS35ϩ2T3A) mutation in the other allele (Table 1). Login to comment 97 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Arg212Cys ABCA4 p.Arg212Cys ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Gly1977Ser ABCA4 p.Arg1898His ABCA4 p.Trp663* ABCA4 p.Trp663* ABCA4 p.Arg2077Trp ABCA4 p.Glu471Lys ABCA4 p.Gln1412* ABCA4 p.Gln1412* ABCA4 p.Gln1412* ABCA4 p.Gly1975Arg ABCA4 p.Glu1399Lys ABCA4 p.Glu1399Lys ABCA4 p.Glu1399Lys ABCA4 p.Gln1750* ABCA4 p.Gln1750* ABCA4 p.Gln1750* ABCA4 p.Gln1750* ABCA4 p.Ser1689Pro ABCA4 p.Ser1689Pro ABCA4 p.Arg572Gln ABCA4 p.Arg572Gln ABCA4 p.Arg572Gln ABCA4 p.Arg572Gln ABCA4 p.Gly607Arg ABCA4 p.Ser1063Pro ABCA4 p.Ser1063Pro ABCA4 p.Gly1748Arg ABCA4 p.Gly1748Arg ABCA4 p.Gln635Lys ABCA4 p.Gln635Lys ABCA4 p.Phe1440Val ABCA4 p.Phe1440Val ABCA4 p.Glu1885Lys ABCA4 p.Glu1885Lys ABCA4 p.Glu1885Lys Characteristics of the 27 patients with STGD1 Patient Sex Age Onset VA (OD) VA (OS) CFC DF Mut(1) Mut(2) Slow Rod ERG Fast Rod ERG 1 M 32 9 1/50 20/400 Severe ϩϩ Q1412X R2077W 19.2 12.1 2 M 49 17 20/200 20/200 Severe ϩ 768G3T G1961E 56.1 23.8 3 M 46 30 20/40 20/200 Mild ϩ E471K G1961E 31.7 29.0 4* M 27 19 20/32 20/100 Moderate ϩ 2588G3C E1885K 35.0 45.1 5* M 31 18 20/400 20/400 Severe ϩϩ 2588G3C E1885K 36.1 39.1 6* F 29 12 20/200 20/200 Moderate ϩϩ 2588G3C E1885K 23.4 8.1 7 F 23 18 20/400 20/400 Mild ϩϩ E1399K G1977S 103.5 39.3 8 M 28 17 20/200 20/200 Mild ϩϩ R1898H G1975R 44.4 19.5 9 M 39 29 20/100 20/200 Moderate ϩ G607R G1961E 45.8 20.7 10 F 23 17 20/200 20/200 Mild - P68L S1689P 80.2 25.9 11 F 33 30 20/50 20/50 Mild - E1399K G1961E 49.8 62.0 12 M 50 42 20/400 20/64 Severe ϩϩ 2588G3C L541P/A1038V 53.8 30.2 13 M 36 25 20/40 20/32 Moderate ϩϩ 296insA A1038V 88.2 40.0 14 F 55 16 HM HM Severe ϩϩ Q635K IVS40ϩ5G3A 11.7 11.2 15 F 27 25 20/100 20/50 Moderate ϩ 2588G3C Q1412X 65.8 71.5 16 F 45 14 1/50 1/35 Severe ϩϩ L541P/A1038V S1063P 16.4 16.6 17 M 40 23 20/100 20/200 Moderate ϩ 296insA G1961E 46.1 58.3 18** M 35 15 20/400 20/400 Moderate ϩ 2588G3C Q1750X 14.1 12.9 19** M 43 14 HM HM Severe ϩϩ 2588G3C Q1750X 17.4 8.6 20 F 32 8 20/200 20/200 Severe ϩ G1961E G1961E 66.2 79.0 21 F 23 12 20/400 20/400 Mild - R212C T9591 24.6 25.3 22 F 29 9 20/200 20/200 Moderate ϩ L541P/A1038V G1961E 72.3 31.8 23 M 20 9 20/400 20/400 Moderate ϩϩ L541P/A1038V IVS40>9;5G3A 64.7 42.2 24 F 39 23 20/400 20/50 Moderate - W663X G1961E 92.6 68.8 25 F 41 36 20/200 20/64 Severe ϩ F1440V G1748R 97.2 52.7 26*** M 13 10 20/100 20/200 Moderate - R572Q/2588G3C IVS35ϩ2T3A 59.2 33.5 27*** M 16 15 20/200 20/200 Moderate ϩ R572Q/2588G3C IVS35ϩ2T3A 31.1 22.9 Age at examination (y), gender, age of onset (y), visual acuity (VA), central fundus changes (CFC), and existence and distribution of the typical white-yellow flecks (DF) are shown. Login to comment 104 ABCA4 p.Gly1961Glu For instance, patient 20, who was homozygous for the G1961E mutation, exhibited the earliest onset (8 years of age) but relatively mild reductions of both the slow and fast rod ERG signals. Login to comment 106 ABCA4 p.Arg2077Trp ABCA4 p.Gln1412* Patient 1, however, who also showed an early onset (9 years), carrying the mutations Q1412X and R2077W, exhibited severely reduced amplitudes of the slow and fast rod ERG signals. Login to comment 107 ABCA4 p.Gly1961Glu Patient 13, carrying the mutations 296insA and G1961E, exhibited the latest onset (42 years). Login to comment 200 ABCA4 p.Gly863Ala A recent functional study has supported this view and shown that the two products of the 2588G3C mutation, G863A and delG863, produce a substantially impaired and a mildly impaired protein, respectively.61 Genetically, our STGD1 study group therefore appears to be relatively uniform, in the sense that in none of the patients there were two protein-truncating disease alleles. Login to comment