Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Clinical Testing Results
3.2. Genetic Testing Results
4. Discussion
Supplementary Materials
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Sample ID | Family ID | Year of birth | Sex | Diagno-sis | Age of onset | Age at dia-gnosis | Age at exami-nation | Allele 1 | Allele 2 | ||
---|---|---|---|---|---|---|---|---|---|---|---|
Nucleotide level | Protein level | Nucleotide level | Protein level | ||||||||
225 | F17-003 | 1983 | F | STGD1 | 7.0 | 7.0 | 34 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.634C>T | p.(Arg212Cys) |
229 | F17-007 | 1988 | F | STGD1 | 7.0 | 9.0 | 29 | c.4537dup | p.(Gln1513Profs*42) | c.5461-10T>C | p.[Thr1821Valfs*13,Thr1821Aspfs*6] |
230 | F17-008 | 1954 | M | STGD1 | 44.0 | 62.0 | 63 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.5603A>T | p.(Asn1868Ile) |
231 | F17-009 | 1972 | F | STGD1 | 14.0 | 16.0 | 45 | c.4234C>T | p.(Gln1412*) | c.5882G>A | p.(Gly1961Glu) |
235 | F17-010 | 1989 | F | STGD1 | 7.0 | 11.0 | 28 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.5714+5G>A | p.[=,Glu1863Leufs*33] |
239 | F17-014 | 1984 | M | STGD1 | 30.0 | 31.0 | 33 | c.194G>A | p.(Gly65Glu) | c.2588G>C | p.[Gly863Ala,Gly863del] |
240 | F17-015 | 1980 | M | STGD1 | 8.0 | 10.0 | 37 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] |
247 | F17-022 | 1990 | F | STGD1 | 13.0 | 23.0 | 27 | c.194G>A | p.(Gly65Glu) | c.5882G>A | p.(Gly1961Glu) |
252 | F17-025 | 2009 | M | STGD1 | 7.0 | 8.0 | 8 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.1622T>C | p.(Leu541Pro) |
253 | F17-026 | 2006 | M | STGD1 | 8.5 | 9.0 | 11 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.2041C>T | p.(Arg681*) |
255 | F17-028 | 2001 | F | STGD1 | 7.0 | 7.5 | 16 | c.5684_5685delTG | p.(Leu1895Argfs*16) | c.5882G>A | p.(Gly1961Glu) |
264 | F17-036 | 1999 | M | STGD1 | 14.0 | 16.0 | 18 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.4462T>C | p.(Cys1488Arg) |
266 | F17-038 | 2006 | M | STGD1 | 9.0 | 9.5 | 11 | c.2894A>G | p.(Asn965Ser) | c.6319_6325del | p.(Arg2107Cysfs*6) |
277 | F17-045 | 2004 | M | STGD1 | 11.0 | 12.0 | 13 | c.1211C>A | p.(Ser404*) | c.5882G>A | p.(Gly1961Glu) |
284 | F17-052 | 2001 | M | STGD1 | 10.0 | 16.0 | 16 | c.454C>T | p.(Arg152*) | c.2588G>C | p.[Gly863Ala,Gly863del] |
286 | F17-054 | 1981 | F | RP | 8.0 | 11.0 | 36 | c.2626C>T | p.(Gln876*) | c.5196+1G>A | p.(?) |
289 | F17-057 | 2006 | M | STGD1 | 8.0 | 9.0 | 11 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.3056C>T | p.(Thr1019Met) |
298 | F17-062 | 2005 | M | STGD1 | 8.0 | 9.0 | 12 | c.710T>C | p.(Leu237Pro) | c.4234C>T | p.(Gln1412*) |
302 | F17-065 | 2004 | F | STGD1 | 9.0 | 11.0 | 13 | c.[2588G>C;5603A>T] | p.[Gly863Ala,Gly863del;Asn1868Ile] | c.(2653+1_2654-1)_(*1_?)del | p.(Gly885Valfs*71) |
305 | F17-068 | 2005 | M | STGD1 | 11.0 | 11.0 | 12 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.4139C>T | p.(Pro1380Leu) |
309 | F17-072 | 1987 | F | STGD1 | 8.0 | 8.5 | 30 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.4234C>T | p.(Gln1412*) |
314 | F17-077 | 2003 | F | STGD1 | 12.0 | 14.0 | 14 | c.61C>T | p.(Gln21*) | c.3413T>A | p.(Leu1138His) |
316 | F17-079 | 2007 | F | CD | 8.0 | 9.5 | 10 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] |
318 | F17-081 | 2009 | F | STGD1 | 7.5 | 8.0 | 8 | c.3364G>T | p.(Glu1122*) | c.4234C>T | p.(Gln1412*) |
321 | F17-083 | 2004 | M | STGD1 | 11.5 | 12.0 | 13 | c.4234C>T | p.(Gln1412*) | c.5882G>A | p.(Gly1961Glu) |
325 | F17-086 | 2004 | F | STGD1 | 11.0 | 12.0 | 13 | c.454C>T | p.(Arg152*) | c.66G>A | p.[=,?] |
327 | F17-088 | 2008 | F | STGD1 | 7.5 | 8.0 | 9 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.4234C>T | p.(Gln1412*) |
333 | F17-095 | 1994 | M | RP | 10.0 | 11.0 | 23 | c.5196+1G>A | p.(?) | c.5196+1G>A | p.(?) |
338 | F17-100 | 1976 | F | STGD1 | 10.0 | 12 | 41 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] |
344 | F17-106 | 1990 | F | STGD1 | 7.0 | 19.0 | 27 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.5882G>A | p.(Gly1961Glu) |
345 | F17-107 | 1989 | F | STGD1 | 18.0 | 20.0 | 28 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.5882G>A | p.(Gly1961Glu) |
347 | F17-109 | 1990 | F | STGD1 | 16.0 | 20.0 | 27 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.5714+5G>A | p.[=,Glu1863Leufs*33] |
348 | F17-110 | 1975 | F | STGD1 | 19.0 | 20.0 | 42 | c.4234C>T | p.(Gln1412*) | c.2588G>C | p.[Gly863Ala,Gly863del] |
349 | F17-111 | 1992 | M | STGD1 | 22.0 | 24.0 | 25 | c.4234C>T | p.(Gln1412*) | c.1654G>A | p.(Val552Ile) |
351 | F17-113 | 1994 | M | STGD1 | 9.0 | 9.0 | 23 | c.2588G>C | p.(Gly863Ala) | c.5461-10T>C | p.[Thr1821Valfs*13,Thr1821Aspfs*6] |
356 | F17-118 | 1990 | F | STGD1 | 21.0 | 27.0 | 27 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.5882G>A | p.(Gly1961Glu) |
363 | F18-002 | 1968 | F | RP | 7.0 | 11.0 | 50 | c.4234C>T | p.(Gln1412*) | c.1622T>C | p.(Leu541Pro) |
364 | F18-003 | 1987 | F | STGD1 | 4.0 | 15.0 | 31 | c.3413T>A | p.(Leu1138His) | c.4919G>A | p.(Arg1640Gln) |
370 | F18-009 | 1975 | M | RP | 7.0 | 9.0 | 43 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.1622T>C | p.(Leu541Pro) |
373 | F18-012 | 1982 | F | STGD1 | 28.0 | 33.0 | 36 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.5882G>A | p.(Gly1961Glu) |
377 | F18-016 | 1991 | M | STGD1 | 8.0 | 21.0 | 27 | c.3259G>A | p.(Glu1087Lys) | c.5714+5G>A | p.[=,Glu1863Leufs*33] |
379 | F18-018 | 1996 | F | STGD1 | ? | 21 | 22 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] |
385 | F18-024 | 1995 | F | CRD | 12.0 | 19.0 | 23 | c.3261G>A | p.(Glu1087Asp) | ||
389 | F18-028 | 1962 | F | RP | 7.0 | 7 | 56 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.4234C>T | p.(Gln1412*) |
391 | F18-030 | 1979 | M | STGD1 | 24.0 | 26.0 | 39 | c.4234C>T | p.(Gln1412*) | c.5714+5G>A | p.[=,Glu1863Leufs*33] |
397 | F18-036 | 1963 | F | RP | 8.5 | 9.5 | 55 | c.4793C>A | p.(Ala1598Asp) | c.5196+1G>A | p.(?) |
403 | F18-040 | 2000 | F | STGD1 | 10.0 | 13.0 | 18 | c.3413T>A | p.(Leu1138His) | c.4070C>T | p.(Ala1357Val) |
407 | F18-044 | 1957 | F | RP | 4.0 | 14 | 61 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] |
410 | F18-047 | 1972 | F | RP | 7.0 | 8.0 | 46 | c.1937+1G>A | p.(?) | c.4918C>T | p.(Arg1640Trp) |
413 | F18-050 | 1977 | M | STGD1 | 8.0 | 8.5 | 41 | c.4234C>T | p.(Gln1412*) | c.4234C>T | p.(Gln1412*) |
417 | F18-054 | 1983 | M | STGD1/CRD | 8.0 | 8.5 | 35 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.5461-10T>C | p.[Thr1821Valfs*13,Thr1821Aspfs*6] |
418 | F18-055 | 1955 | F | STGD1/CRD | 27.0 | 60.0 | 63 | c.5887C>T | p.(Arg1963Cys) | ||
419 | F18-056 | 1981 | F | RP | 5.0 | 18.0 | 37 | c.5882G>A | p.(Gly1961Glu) | c.1411G>A | p.(Glu471Lys) |
420 | F18-057 | 1959 | M | RP | 26.0 | 26 | 59 | c.587C>T | p.(Pro196Leu) | ||
424 | F18-061 | 1980 | M | RP | 10.0 | 23.0 | 38 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.5899-3T>G | p.(?) |
427 | F18-064 | 2000 | F | STGD1 | 5.0 | 10.0 | 18 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.1022A>G | p.(Glu341Gly) |
428 | F18-065 | 1972 | F | RP | 8.0 | 10.0 | 46 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.5461-10T>C | p.[Thr1821Valfs*13,Thr1821Aspfs*6] |
478 | F18-069 | 2005 | F | STGD1 | 9.0 | 12.0 | 13 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.2588G>C | p.[Gly863Ala,Gly863del] |
479 | F18-070 | 2000 | F | STGD1 | 7.5 | 8.0 | 18 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.634C>T | p.(Arg212Cys) |
480 | F18-071 | 2009 | F | CRD | 7.0 | 8.0 | 9 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] |
485 | F18-075 | 2007 | M | STGD1 | 9.0 | 9.5 | 11 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.634C>T | p.(Arg212Cys) |
486 | F18-076 | 2007 | M | STGD1 | 9.0 | 10.0 | 11 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.5714+5G>A | p.[=,Glu1863Leufs*33] |
490 | F18-080 | 2008 | M | STGD1 | 9.0 | 9.0 | 10 | c.[1622T>C;3113C>T] | p.[Leu541Pro;Ala1038Val] | c.4352+1G>A | p.(?) |
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Tracewska, A.M.; Kocyła-Karczmarewicz, B.; Rafalska, A.; Murawska, J.; Jakubaszko-Jablonska, J.; Rydzanicz, M.; Stawiński, P.; Ciara, E.; Khan, M.I.; Henkes, A.; Hoischen, A.; Gilissen, C.; van de Vorst, M.; Cremers, F.P.M.; Płoski, R.; Chrzanowska, K.H. Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland. Genes 2019, 10, 959. https://doi.org/10.3390/genes10120959
Tracewska AM, Kocyła-Karczmarewicz B, Rafalska A, Murawska J, Jakubaszko-Jablonska J, Rydzanicz M, Stawiński P, Ciara E, Khan MI, Henkes A, Hoischen A, Gilissen C, van de Vorst M, Cremers FPM, Płoski R, Chrzanowska KH. Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland. Genes. 2019; 10(12):959. https://doi.org/10.3390/genes10120959
Chicago/Turabian StyleTracewska, Anna M., Beata Kocyła-Karczmarewicz, Agnieszka Rafalska, Joanna Murawska, Joanna Jakubaszko-Jablonska, Małgorzata Rydzanicz, Piotr Stawiński, Elżbieta Ciara, Muhammad Imran Khan, Arjen Henkes, Alexander Hoischen, Christian Gilissen, Maartje van de Vorst, Frans P. M. Cremers, Rafał Płoski, and Krystyna H. Chrzanowska. 2019. "Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland" Genes 10, no. 12: 959. https://doi.org/10.3390/genes10120959