Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

inherited macula maculopathies penetrance retinal sequencing

Journal

Biomolecules
ISSN: 2218-273X
Titre abrégé: Biomolecules
Pays: Switzerland
ID NLM: 101596414

Informations de publication

Date de publication:
19 Mar 2024
Historique:
received: 29 01 2024
revised: 14 03 2024
accepted: 15 03 2024
medline: 28 3 2024
pubmed: 28 3 2024
entrez: 28 3 2024
Statut: epublish

Résumé

Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.8% of patients were considered genetically explained by 460 different variants in 49 distinct genes of which 73 were novel variants, with some affecting splicing. The top five most frequent causative genes were

Identifiants

DOI: 10.3390/biom14030367 PMID: 38540785
pubmed: 38540785
pii: biom14030367
doi: 10.3390/biom14030367
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : HRCI HRB Joint Funding Scheme
ID : 2020-007
Organisme : Stichting Oogfonds Nederland
ID : UZ 2020-17
Organisme : Pro Retina Deutschland
ID : UZ 2020-17
Organisme : Stichting tot Verbetering van het Lot der Blinden
ID : UZ 2020-17
Organisme : Stichting voor Ooglijders
ID : UZ 2020-17
Organisme : Stichting Blindenhulp
ID : UZ 2020-17

Auteurs

Rebekkah J Hitti-Malin (RJ)

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
ORCID: 0000-0002-7873-2880

Daan M Panneman (DM)

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.

Zelia Corradi (Z)

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
ORCID: 0000-0002-2934-497X

Erica G M Boonen (EGM)

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
ORCID: 0000-0003-1509-3150

Galuh Astuti (G)

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.

Claire-Marie Dhaenens (CM)

Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, F-59000 Lille, France.
ORCID: 0000-0003-4719-4124

Heidi Stöhr (H)

Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.
ORCID: 0000-0002-1508-0731

Bernhard H F Weber (BHF)

Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.
Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany.
ORCID: 0000-0002-8808-7723

Dror Sharon (D)

Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel.
ORCID: 0000-0002-1789-5811

Eyal Banin (E)

Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel.

Marianthi Karali (M)

Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy.
ORCID: 0000-0003-0757-3330

Sandro Banfi (S)

Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.
Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy.
Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy.
ORCID: 0000-0002-6541-8833

Tamar Ben-Yosef (T)

Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.

Damjan Glavač (D)

Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
Center for Human Genetics and Pharmacogenomics, Faculty of Medicine, University of Maribor, 2000 Maribor, Slovenia.
ORCID: 0000-0001-9912-3331

G Jane Farrar (GJ)

The School of Genetics and Microbiology, The University of Dublin Trinity College, D02 VF25 Dublin, Ireland.

Carmen Ayuso (C)

Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28049 Madrid, Spain.
Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
ORCID: 0000-0002-9242-7065

Petra Liskova (P)

Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
ORCID: 0000-0001-7834-8486

Lubica Dudakova (L)

Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
ORCID: 0000-0003-4718-8955

Marie Vajter (M)

Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
ORCID: 0000-0002-9590-9633

Monika Ołdak (M)

Department of Histology and Embryology, Medical University of Warsaw, 02-004 Warsaw, Poland.
ORCID: 0000-0002-4216-9141

Jacek P Szaflik (JP)

Department of Ophthalmology, Medical University of Warsaw, SPKSO Ophthalmic University Hospital, 03-709 Warsaw, Poland.

Anna Matynia (A)

College of Optometry, University of Houston, Houston, TX 77004, USA.
Jules Stein Eye Institute, Los Angeles, CA 90095, USA.
Ophthalmology, University of California Los Angeles David Geffen School of Medicine, Los Angeles, CA 90095, USA.

Michael B Gorin (MB)

Jules Stein Eye Institute, Los Angeles, CA 90095, USA.
ORCID: 0000-0001-9498-7982

Kati Kämpjärvi (K)

Blueprint Genetics, 02150 Espoo, Finland.

Miriam Bauwens (M)

Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.
Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
ORCID: 0000-0003-0402-9006

Elfride De Baere (E)

Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.
Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
ORCID: 0000-0002-5609-6895

Carel B Hoyng (CB)

Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.

Catherina H Z Li (CHZ)

Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.

Caroline C W Klaver (CCW)

Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.

Chris F Inglehearn (CF)

Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds LS9 7TF, UK.
ORCID: 0000-0002-5143-2562

Kaoru Fujinami (K)

Department of Ophthalmology, The Jikei University School of Medicine, Tokyo 105-8461, Japan.

Carlo Rivolta (C)

Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland.
ORCID: 0000-0002-0733-9950

Rando Allikmets (R)

Department of Ophthalmology, Columbia University, New York, NY 10027, USA.
Department of Pathology & Cell Biology, Columbia University, New York, NY 10027, USA.

Jana Zernant (J)

Department of Ophthalmology, Columbia University, New York, NY 10027, USA.

Winston Lee (W)

Department of Ophthalmology, Columbia University, New York, NY 10027, USA.

Osvaldo L Podhajcer (OL)

Laboratorio de Terapia Molecular y Celular (Genocan), Fundación Instituto Leloir, CONICET, Buenos Aires 1405, Argentina.

Ana Fakin (A)

Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.

Jana Sajovic (J)

Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
ORCID: 0000-0002-1982-7572

Alaa AlTalbishi (A)

St John of Jerusalem Eye Hospital Group, East Jerusalem 91198, Palestine.

Sandra Valeina (S)

Department of Ophthalmology, Riga Stradins University, LV-1007 Riga, Latvia.
Children's Clinical University Hospital, LV-1004 Riga, Latvia.

Gita Taurina (G)

Children's Clinical University Hospital, LV-1004 Riga, Latvia.

Andrea L Vincent (AL)

Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Grafton, Auckland 1023, New Zealand.
Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland 1142, New Zealand.
ORCID: 0000-0002-4185-3267

Lisa Roberts (L)

University of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
ORCID: 0000-0001-6766-0255

Raj Ramesar (R)

University of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
ORCID: 0000-0001-5688-1634

Giovanna Sartor (G)

Department of Pharmacy and Biotechnology, University of Bologna, 40127 Bologna, Italy.

Elena Luppi (E)

Department of Medical and Surgical Sciences, University of Bologna, 40127 Bologna, Italy.
Unit of Medical Genetics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
ORCID: 0000-0001-5893-0655

Susan M Downes (SM)

Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, Oxford University, Oxford OX3 9DU, UK.
Oxford Eye Hospital, Oxford University NHS Foundation Trust, Oxford OX3 9DU, UK.
ORCID: 0000-0001-7373-2665

L Ingeborgh van den Born (LI)

The Rotterdam Eye Hospital, 3011 BH Rotterdam, The Netherlands.

Terri L McLaren (TL)

Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.
Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.
ORCID: 0000-0003-3195-669X

John N De Roach (JN)

Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.
Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.

Tina M Lamey (TM)

Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.
Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.
ORCID: 0000-0002-4608-4073

Jennifer A Thompson (JA)

Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.
ORCID: 0000-0003-3553-6457

Fred K Chen (FK)

Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.
ORCID: 0000-0003-2809-9930

Anna M Tracewska (AM)

Datana Solutions, 54-530 Wroclaw, Poland.

Smaragda Kamakari (S)

Ophthalmic Genetics Unit, OMMA Ophthalmological Institute of Athens, 115 25 Athens, Greece.

Juliana Maria Ferraz Sallum (JMF)

Department of Ophthalmology and Visual Sciences, Universidade Federal de São Paulo, São Paulo 04023-062, SP, Brazil.
Instituto de Genética Ocular, São Paulo 04552-050, SP, Brazil.
ORCID: 0000-0002-7206-4447

Hanno J Bolz (HJ)

Institute of Human Genetics, University Hospital of Cologne, 50937 Cologne, Germany.

Hülya Kayserili (H)

Department of Medical Genetics, Koc University School of Medicine (KUSOM), 34450 Istanbul, Turkey.
ORCID: 0000-0003-0376-499X

Susanne Roosing (S)

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
ORCID: 0000-0001-9038-0067

Frans P M Cremers (FPM)

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.

Classifications MeSH