ABCA4 p.Lys678Asn
Predicted by SNAP2: | A: N (53%), C: N (53%), D: N (57%), E: N (61%), F: D (53%), G: N (57%), H: N (66%), I: N (61%), L: N (57%), M: N (57%), N: N (78%), P: N (53%), Q: N (72%), R: N (87%), S: N (66%), T: N (78%), V: N (57%), W: D (71%), Y: N (57%), |
Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Next-generation sequencing applied to a large Fren... Orphanet J Rare Dis. 2015 Jun 24;10:85. doi: 10.1186/s13023-015-0300-3. Boulanger-Scemama E, El Shamieh S, Demontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Souied E, Mohand-Said S, Sahel JA, Zeitz C, Audo I
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Orphanet J Rare Dis. 2015 Jun 24;10:85. doi: 10.1186/s13023-015-0300-3., [PMID:26103963]
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BACKGROUND: Cone and cone-rod dystrophies are clinically and genetically heterogeneous inherited retinal disorders with predominant cone impairment. They should be distinguished from the more common group of rod-cone dystrophies (retinitis pigmentosa) due to their more severe visual prognosis with early central vision loss. The purpose of our study was to document mutation spectrum of a large French cohort of cone and cone-rod dystrophies. METHODS: We applied Next-Generation Sequencing targeting a panel of 123 genes implicated in retinal diseases to 96 patients. A systematic filtering approach was used to identify likely disease causing variants, subsequently confirmed by Sanger sequencing and co-segregation analysis when possible. RESULTS: Overall, the likely causative mutations were detected in 62.1 % of cases, revealing 33 known and 35 novel mutations. This rate was higher for autosomal dominant (100 %) than autosomal recessive cases (53.8 %). Mutations in ABCA4 and GUCY2D were responsible for 19.2 % and 29.4 % of resolved cases with recessive and dominant inheritance, respectively. Furthermore, unexpected genotype-phenotype correlations were identified, confirming the complexity of inherited retinal disorders with phenotypic overlap between cone-rod dystrophies and other retinal diseases. CONCLUSIONS: In summary, this time-efficient approach allowed mutation detection in the most important cohort of cone-rod dystrophies investigated so far covering the largest number of genes. Association of known gene defects with novel phenotypes and mode of inheritance were established.
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No. Sentence Comment
101 + Moderately - - - Novel ABCA4 NM_000350.2 Het 14 c.2034G>T p.(K678N) + Highly Prd Des Dc (Huang et al. 2014) [84] CIC06735 Ar + ABC4A NM_000350.2 Ho 42 c.5892del p.(G1965Efs*9) Np - - - - a CIC06913 Ar + ABCA4 NM_000350.2 Ho 21 c.3056C>T p.(T1019M) + Highly Prd D Dc (Rozet et al. 1998) (rs201855602) [85] CIC04239 Ar + CDHR1 NM_033100.3 Ho 9 c.838C>T p.(R280*) Np - - - Novel CIC06568 Ar + CERKL NM_001030311.2 Ho 8 c.1090C>T p.(R364*) Np - - - - Thesis (Sergouniotis P. 2012) b CIC07299 simplex + PDE6C NM_006204.3 Ho 2 c.542del p.(A181Efs*13) Np - - - - Novel CIC05218 Ar + PDE6C NM_006204.3 Ho IVS 10 c.1413+3A>T r.(spl?)
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ABCA4 p.Lys678Asn 26103963:101:63
status: NEW