ABCA4 c.5917del ;(p.V1973*)

Variant ID: 1-94473278-AC-A

NM_000350.2(ABCA4):c.5917del;(p.V1973*)

This variant was identified in 34 publications

View GRCh38 version.




Publications:


The genetic landscape of inherited retinal dystrophies in Arabs.

Bmc Medical Genomics
Jaffal, Lama L; Joumaa, Hawraa H; Noureldine, Jinane J; Banjak, Malak M; Ibrahim, Mariam M; Mrad, Zamzam Z; Salami, Ali A; Shamieh, Said El SE
Publication Date: 2023-05-01

Variant appearance in text: ABCA4: 5917del
PubMed Link: 37127645
Variant Present in the following documents:
  • 12920_2023_1518_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations.

International Journal Of Molecular Sciences
Gersch, Julia J; Hufendiek, Katerina K; Delarocque, Julien J; Framme, Carsten C; Jacobsen, Christina C; Stöhr, Heidi H; Kellner, Ulrich U; Hufendiek, Karsten K
Publication Date: 2022-12-16

Variant appearance in text: ABCA4: 5917del
PubMed Link: 36555650
Variant Present in the following documents:
  • ijms-23-16007.pdf
View BVdb publication page



Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports
Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S
Publication Date: 2022-12-02

Variant appearance in text: ABCA4: 5917del
PubMed Link: 36460718
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_24636.pdf
  • 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A five-year follow-up of <i>ABCA4</i> carriers showing deterioration of retinal function and increased structural changes.

Molecular Vision
Kjellström, Ulrika U; Andréasson, Sten S
Publication Date: 2022

Variant appearance in text: ABCA4: 5917delG
PubMed Link: 36338671
Variant Present in the following documents:
  • Main text
  • mv-v28-300.pdf
View BVdb publication page



Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence.

Ophthalmology Science
Heath Jeffery, Rachael C RC; Thompson, Jennifer A JA; Lo, Johnny J; Lamey, Tina M TM; McLaren, Terri L TL; McAllister, Ian L IL; Mackey, David A DA; Constable, Ian J IJ; De Roach, John N JN; Chen, Fred K FK
Publication Date: 2021-03

Variant appearance in text: ABCA4: 5917delG
PubMed Link: 36246008
Variant Present in the following documents:
  • mmc3.pdf
View BVdb publication page



Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.

Translational Vision Science & Technology
Glinton, Sophie L SL; Calcagni, Antonio A; Lilaonitkul, Watjana W; Pontikos, Nikolas N; Vermeirsch, Sandra S; Zhang, Gongyu G; Arno, Gavin G; Wagner, Siegfried K SK; Michaelides, Michel M; Keane, Pearse A PA; Webster, Andrew R AR; Mahroo, Omar A OA; Robson, Anthony G AG
Publication Date: 2022-09-01

Variant appearance in text: ABCA4: 5917del; Val1973*
PubMed Link: 36178783
Variant Present in the following documents:
  • tvst-11-9-34_s002.pdf
View BVdb publication page



Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.

Frontiers In Genetics
Maltese, Paolo Enrico PE; Colombo, Leonardo L; Martella, Salvatore S; Rossetti, Luca L; El Shamieh, Said S; Sinibaldi, Lorenzo L; Passarelli, Chiara C; Coppè, Andrea Maria AM; Buzzonetti, Luca L; Falsini, Benedetto B; Chiurazzi, Pietro P; Placidi, Giorgio G; Tanzi, Benedetta B; Bertelli, Matteo M; Iarossi, Giancarlo G
Publication Date: 2022

Variant appearance in text: ABCA4: 5917del; Val1973*; rs61751389
PubMed Link: 35836572
Variant Present in the following documents:
  • Table1.xlsx, sheet 5
  • Table1.xlsx, sheet 2
View BVdb publication page



Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.

Scientific Reports
Falsini, Benedetto B; Placidi, Giorgio G; De Siena, Elisa E; Chiurazzi, Pietro P; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Ziccardi, Lucia L; Parisi, Vincenzo V; Iarossi, Giancarlo G; Percio, Marcella M; Piteková, Barbora B; Marceddu, Giuseppe G; Maltese, Paolo Enrico PE; Bertelli, Matteo M
Publication Date: 2022-03-08

Variant appearance in text: ABCA4: 5917del; Val1973*; rs61751389
PubMed Link: 35260635
Variant Present in the following documents:
  • 41598_2022_7618_MOESM1_ESM.pdf
View BVdb publication page



Choroidal Caverns in Stargardt Disease.

Investigative Ophthalmology & Visual Science
Mucciolo, Dario Pasquale DP; Giorgio, Dario D; Lippera, Myrta M; Dattilo, Valeria V; Passerini, Ilaria I; Pelo, Elisabetta E; Sodi, Andrea A; Virgili, Gianni G; Giansanti, Fabrizio F; Murro, Vittoria V
Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 5917del
PubMed Link: 35156991
Variant Present in the following documents:
  • Main text
  • iovs-63-2-25.pdf
View BVdb publication page



Updating the Genetic Landscape of Inherited Retinal Dystrophies.

Frontiers In Cell And Developmental Biology
García Bohórquez, Belén B; Aller, Elena E; Rodríguez Muñoz, Ana A; Jaijo, Teresa T; García García, Gema G; Millán, José M JM
Publication Date: 2021

Variant appearance in text: ABCA4: 5917del
PubMed Link: 34327195
Variant Present in the following documents:
  • Main text
  • fcell-09-645600.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: ABCA4: 5917delG; Val1973Ter; rs61751389
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.

Frontiers In Genetics
Mena, Marcela D MD; Moresco, Angélica A AA; Vidal, Sofía H SH; Aguilar-Cortes, Diana D; Obregon, María G MG; Fandiño, Adriana C AC; Sendoya, Juan M JM; Llera, Andrea S AS; Podhajcer, Osvaldo L OL
Publication Date: 2021

Variant appearance in text: ABCA4: 5917del; Val1973*
PubMed Link: 33841504
Variant Present in the following documents:
  • Data_Sheet_2.xlsx, sheet 2
View BVdb publication page



Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence.

Translational Vision Science & Technology
Jauregui, Ruben R; Nuzbrokh, Yan Y; Su, Pei-Yin PY; Zernant, Jana J; Allikmets, Rando R; Tsang, Stephen H SH; Sparrow, Janet R JR
Publication Date: 2021-01

Variant appearance in text: ABCA4: 5917del; V1973X
PubMed Link: 33505770
Variant Present in the following documents:
  • tvst-10-1-3_s002.pdf
View BVdb publication page



A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R
Publication Date: 2021-01

Variant appearance in text: ABCA4: 5917delG; V1973X
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: ABCA4: 5917delG; Val1973fs; rs61751389
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Bauwens, Miriam M; Garanto, Alejandro A; Sangermano, Riccardo R; Naessens, Sarah S; Weisschuh, Nicole N; De Zaeytijd, Julie J; Khan, Mubeen M; Sadler, Françoise F; Balikova, Irina I; Van Cauwenbergh, Caroline C; Rosseel, Toon T; Bauwens, Jim J; De Leeneer, Kim K; De Jaegere, Sarah S; Van Laethem, Thalia T; De Vries, Meindert M; Carss, Keren K; Arno, Gavin G; Fakin, Ana A; Webster, Andrew R AR; de Ravel de l'Argentière, Thomy J L TJL; Sznajer, Yves Y; Vuylsteke, Marnik M; Kohl, Susanne S; Wissinger, Bernd B; Cherry, Timothy T; Collin, Rob W J RWJ; Cremers, Frans P M FPM; Leroy, Bart P BP; De Baere, Elfride E
Publication Date: 2019-08

Variant appearance in text: STGD1: 5917del
PubMed Link: 30670881
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

Plos One
Weisschuh, Nicole N; Feldhaus, Britta B; Khan, Muhammad Imran MI; Cremers, Frans P M FPM; Kohl, Susanne S; Wissinger, Bernd B; Zobor, Ditta D
Publication Date: 2018

Variant appearance in text: ABCA4: 5917del
PubMed Link: 30576320
Variant Present in the following documents:
  • Main text
  • pone.0205380.pdf
View BVdb publication page



Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.

Journal Of Ophthalmology
Smaragda, Kamakari K; Vassiliki, Kokkinou K; George, Koutsodontis K; Polixeni, Stamatiou S; Christoforos, Giatzakis G; Anastasios, Anastasakis A; Minas, Aslanides Ioannis AI; Stavrenia, Koukoula K; Theoni, Panagiotoglou P; Ioannis, Datseris D; Miltiadis, Tsilimbaris K TK
Publication Date: 2018

Variant appearance in text: STGD1: 5917delG
PubMed Link: 29854428
Variant Present in the following documents:
  • Main text
  • JOPH2018-5706142.pdf
View BVdb publication page



Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations.

Molecular Vision
Schroeder, Marion M; Kjellström, Ulrika U
Publication Date: 2018

Variant appearance in text: STGD: 5917del
PubMed Link: 29386879
Variant Present in the following documents:
  • Main text
  • mv-v24-1.pdf
View BVdb publication page



Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Clinical Ophthalmology (Auckland, N.Z.)
Bryant, Laura L; Lozynska, Olga O; Maguire, Albert M AM; Aleman, Tomas S TS; Bennett, Jean J
Publication Date: 2018

Variant appearance in text: ABCA4: 5917del; rs61751389
PubMed Link: 29343940
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: ABCA4: 5917delG; rs61751389
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.

Genes
Dockery, Adrian A; Stephenson, Kirk K; Keegan, David D; Wynne, Niamh N; Silvestri, Giuliana G; Humphries, Peter P; Kenna, Paul F PF; Carrigan, Matthew M; Farrar, G Jane GJ
Publication Date: 2017-11-03

Variant appearance in text: STGD1: 5917delG
PubMed Link: 29099798
Variant Present in the following documents:
  • Main text
  • genes-08-00304.pdf
View BVdb publication page



Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.

European Journal Of Human Genetics : Ejhg
Lee, Winston W; Schuerch, Kaspar K; Zernant, Jana J; Collison, Frederick T FT; Bearelly, Srilaxmi S; Fishman, Gerald A GA; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R
Publication Date: 2017-06

Variant appearance in text: ABCA4: 5917del; V1973*
PubMed Link: 28327576
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

European Journal Of Human Genetics : Ejhg
Haer-Wigman, Lonneke L; van Zelst-Stams, Wendy Ag WA; Pfundt, Rolph R; van den Born, L Ingeborgh LI; Klaver, Caroline Cw CC; Verheij, Joke Bgm JB; Hoyng, Carel B CB; Breuning, Martijn H MH; Boon, Camiel Jf CJ; Kievit, Anneke J AJ; Verhoeven, Virginie Jm VJ; Pott, Jan Wr JW; Sallevelt, Suzanne Ceh SC; van Hagen, Johanna M JM; Plomp, Astrid S AS; Kroes, Hester Y HY; Lelieveld, Stefan H SH; Hehir-Kwa, Jayne Y JY; Castelein, Steven S; Nelen, Marcel M; Scheffer, Hans H; Lugtenberg, Dorien D; Cremers, Frans Pm FP; Hoefsloot, Lies L; Yntema, Helger G HG
Publication Date: 2017-05

Variant appearance in text: ABCA4: 5917del; Val1973*
PubMed Link: 28224992
Variant Present in the following documents:
  • ejhg20179x6.xlsx, sheet 1
View BVdb publication page



Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Investigative Ophthalmology & Visual Science
Schulz, Heidi L HL; Grassmann, Felix F; Kellner, Ulrich U; Spital, Georg G; Rüther, Klaus K; Jägle, Herbert H; Hufendiek, Karsten K; Rating, Philipp P; Huchzermeyer, Cord C; Baier, Maria J MJ; Weber, Bernhard H F BH; Stöhr, Heidi H
Publication Date: 2017-01-01

Variant appearance in text: STGD: 5917delG
PubMed Link: 28118664
Variant Present in the following documents:
  • Main text
  • iovs-57-15-69_s04.pdf
  • iovs-57-15-69_s05.pdf
View BVdb publication page



Molecular findings from 537 individuals with inherited retinal disease.

Journal Of Medical Genetics
Ellingford, Jamie M JM; Barton, Stephanie S; Bhaskar, Sanjeev S; O'Sullivan, James J; Williams, Simon G SG; Lamb, Janine A JA; Panda, Binay B; Sergouniotis, Panagiotis I PI; Gillespie, Rachel L RL; Daiger, Stephen P SP; Hall, Georgina G; Gale, Theodora T; Lloyd, I Christopher IC; Bishop, Paul N PN; Ramsden, Simon C SC; Black, Graeme C M GCM
Publication Date: 2016-11

Variant appearance in text: ABCA4: 5917delG
PubMed Link: 27208204
Variant Present in the following documents:
  • jmedgenet-2016-103837supp_tables.pdf
View BVdb publication page



Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.

Meta Gene
Tsipi, Maria M; Tzetis, Maria M; Kosma, Konstantina K; Moschos, Marilita M; Braoudaki, Maria M; Poulou, Myrto M; Kanavakis, Emmanuel E; Kitsiou-Tzeli, Sofia S
Publication Date: 2016-06

Variant appearance in text: STGD1: 5917delG
PubMed Link: 27014590
Variant Present in the following documents:
  • Main text
View BVdb publication page



Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

Scientific Reports
Perez-Carro, Raquel R; Corton, Marta M; Sánchez-Navarro, Iker I; Zurita, Olga O; Sanchez-Bolivar, Noelia N; Sánchez-Alcudia, Rocío R; Lelieveld, Stefan H SH; Aller, Elena E; Lopez-Martinez, Miguel Angel MA; López-Molina, Ma Isabel MI; Fernandez-San Jose, Patricia P; Blanco-Kelly, Fiona F; Riveiro-Alvarez, Rosa R; Gilissen, Christian C; Millan, Jose M JM; Avila-Fernandez, Almudena A; Ayuso, Carmen C
Publication Date: 2016-01-25

Variant appearance in text: ABCA4: 5917delG; Val1973*
PubMed Link: 26806561
Variant Present in the following documents:
  • Main text
  • srep19531.pdf
View BVdb publication page



Reduced macular function in ABCA4 carriers.

Molecular Vision
Kjellström, Ulrika U
Publication Date: 2015

Variant appearance in text: ABCA4: 5917delG
PubMed Link: 26261413
Variant Present in the following documents:
  • Main text
  • mv-v21-767.pdf
View BVdb publication page



Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

Investigative Ophthalmology & Visual Science
Alapati, Akhila A; Goetz, Kerry K; Suk, John J; Navani, Mili M; Al-Tarouti, Amani A; Jayasundera, Thiran T; Tumminia, Santa J SJ; Lee, Pauline P; Ayyagari, Radha R
Publication Date: 2014-07-31

Variant appearance in text: ABCR: 5917delG
PubMed Link: 25082885
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of the ABCA4 genomic locus in Stargardt disease.

Human Molecular Genetics
Zernant, Jana J; Xie, Yajing Angela YA; Ayuso, Carmen C; Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel-Angel MA; Simonelli, Francesca F; Testa, Francesco F; Gorin, Michael B MB; Strom, Samuel P SP; Bertelsen, Mette M; Rosenberg, Thomas T; Boone, Philip M PM; Yuan, Bo B; Ayyagari, Radha R; Nagy, Peter L PL; Tsang, Stephen H SH; Gouras, Peter P; Collison, Frederick T FT; Lupski, James R JR; Fishman, Gerald A GA; Allikmets, Rando R
Publication Date: 2014-12-20

Variant appearance in text: ABCA4: 5917del
PubMed Link: 25082829
Variant Present in the following documents:
  • Main text
View BVdb publication page



Psychophysical measurement of rod and cone thresholds in stargardt disease with full-field stimuli.

Retina (Philadelphia, Pa.)
Collison, Frederick T FT; Fishman, Gerald A GA; McAnany, J Jason JJ; Zernant, Jana J; Allikmets, Rando R
Publication Date: 2014-09

Variant appearance in text: ABCA4: 5917delG
PubMed Link: 24695063
Variant Present in the following documents:
  • Main text
View BVdb publication page



Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Ophthalmology
Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel-Angel MA; Zernant, Jana J; Aguirre-Lamban, Jana J; Cantalapiedra, Diego D; Avila-Fernandez, Almudena A; Gimenez, Ascension A; Lopez-Molina, Maria-Isabel MI; Garcia-Sandoval, Blanca B; Blanco-Kelly, Fiona F; Corton, Marta M; Tatu, Sorina S; Fernandez-San Jose, Patricia P; Trujillo-Tiebas, Maria-Jose MJ; Ramos, Carmen C; Allikmets, Rando R; Ayuso, Carmen C
Publication Date: 2013-11

Variant appearance in text: ABCA4: 5917delG
PubMed Link: 23755871
Variant Present in the following documents:
  • Main text
View BVdb publication page



ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

European Journal Of Human Genetics : Ejhg
Kitiratschky, Veronique B D VB; Grau, Tanja T; Bernd, Antje A; Zrenner, Eberhart E; Jägle, Herbert H; Renner, Agnes B AB; Kellner, Ulrich U; Rudolph, Günther G; Jacobson, Samuel G SG; Cideciyan, Artur V AV; Schaich, Simone S; Kohl, Susanne S; Wissinger, Bernd B
Publication Date: 2008-07

Variant appearance in text: ABCA4: 5917delG; V1973X
PubMed Link: 18285826
Variant Present in the following documents:
  • Main text
View BVdb publication page