ArticleAmerican journal of human genetics2018
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
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Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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29citing papers in PubMed, 1 pooled it
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.Nature communications · 2021Pooled it
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Whole Exome Sequencing Study Uncovers Novel Candidate Genes and Protein-Coding Variants for Cataract.Investigative ophthalmology & visual science · 2025Article
- C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Through theGenes · 2024Review
- Comprehensive insights into the impact of bacterial indole-3-acetic acid on sensory preferences in Drosophila melanogaster.Scientific reports · 2024Article
- Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans.Nature reviews. Genetics · 2024Review
- Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing.International ophthalmology · 2023Article
- Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.International journal of molecular sciences · 2023Article
- FOXI3 pathogenic variants cause one form of craniofacial microsomia.Nature communications · 2023Article
- Comparative Genomics Provides Insights into Adaptive Evolution in Tactile-Foraging Birds.Genes · 2022Article
- Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.American journal of human genetics · 2022Article
- Genomic basis of evolutionary adaptation in a warm-blooded fish.Innovation (Cambridge (Mass.)) · 2022Article
- A Novel Mutation in the FYCO1 Gene Causing Congenital Cataract: Case Study of a Chinese Family.Disease markers · 2022Article
- Inherited cataracts: Genetic mechanisms and pathways new and old.Experimental eye research · 2021Review
- Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene.European journal of human genetics : EJHG · 2021Article
- Case Report: A Novel Missense Variant in theFrontiers in genetics · 2021Article
- UsingDevelopment (Cambridge, England) · 2020Review
- De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.Human molecular genetics · 2020Article
- Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.Human molecular genetics · 2020Article
Corrections and comments
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Authors and funding
21 authors at 10 institutions in 5 countries.
Muhammad AnsarDepartment of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland.
Hyung-Lok ChungDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Rachel L TaylorManchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St. Mary's Hospital, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester M13 9PL, UK.
Aamir NazirInstitute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan.
Samina ImtiazDepartment of Genetics, University of Karachi, Karachi 75270, Pakistan.
Muhammad T SarwarInstitute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan.
Alkistis ManousopoulouManchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St. Mary's Hospital, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester M13 9PL, UK.
Periklis MakrythanasisDepartment of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Biomedical Research Foundation of the Academy of Athens, Athens 115 27, Greece.
Sondas SaeedDepartment of Genetics, University of Karachi, Karachi 75270, Pakistan.
Emilie FalconnetDepartment of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland.
Michel GuipponiDepartment of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland.
Constantin J PournarasHirslanden Clinique La Colline, Geneva 1206, Switzerland.
Maqsood A AnsariDepartment of Genetics, University of Karachi, Karachi 75270, Pakistan.
Emmanuelle RanzaDepartment of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland.
Federico A SantoniDepartment of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Department of Endocrinology Diabetes and Metabolism, University hospital of Lausanne, Lausanne 1011, Switzerland.
Jawad AhmedInstitute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan.
Inayat ShahInstitute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan.
Khitab GulDepartment of Genetics, University of Karachi, Karachi 75270, Pakistan; Department of Bio Sciences, Faculty of Life Science, Mohammad Ali Jinnah University, Karachi 75400, Pakistan.
Graeme Cm BlackManchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St. Mary's Hospital, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester M13 9PL, UK.
Hugo J BellenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston TX 77030, USA; Department of Neuroscience and Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu.
Stylianos E AntonarakisDepartment of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, Geneva 1211, Switzerland. Electronic address: stylianos.antonarakis@unige.ch.
University of Geneva · CHKhyber Medical University · PKUniversity of Karachi · PKUniversity Hospital of Geneva · CHHirslanden Clinique La Colline · CHManchester University NHS Foundation Trust · GBNeurological Research Institute · USSt Mary's Hospital · GBTexas Children's Hospital · USUniversity of Manchester · GB
Funding
Transposon induced disruption of most Drosophila genesR01GM067858 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2003 to 2020
$15.7MResource Component: Acquisition, maintenance and distribution of Drosophila stocksP40OD018537 · OD · TRUSTEES OF INDIANA UNIVERSITY · PI Annette L. Parks · 2014 to 2026
$13.5MSteps towards a paternal gene activation therapy for Angelman syndromeU54HD083092 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI NELSON, DAVID LOREN, SAMACO, RODNEY C · 2014 to 2019
$7.8MExpansion and characterization of the Drosophila Toolkit to study SARS-CoV-2R24OD022005 · OD · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2016 to 2023
$7.4MMedical Research Council MR/R024952/1NICHD NIH HHS U54 HD083092NIGMS NIH HHS R01 GM067858NIH HHS P40 OD018537NIH HHS R24 OD022005
Abstract
Infantile and childhood-onset cataracts form a heterogeneous group of disorders; among the many genetic causes, numerous pathogenic variants in additional genes associated with autosomal-recessive infantile cataracts remain to be discovered. We identified three consanguineous families affected by bilateral infantile cataracts. Using exome sequencing, we found homozygous loss-of-function variants in DNMBP: nonsense variant c.811C>T (p.Arg271
Indexed as
AdultAllelesAnimalsCadherinsCataractChildCytoskeletal ProteinsDrosophilaEpithelial CellsExomeFemaleGenetic Predisposition to DiseaseGenetic VariationHomozygoteHumansLod ScoreCadherinsCytoskeletal ProteinsDNMBP protein, humanbristlescataractcorneaDNMBPDrosophilaERGeye developmentphotoreceptorspigment cellsstill life
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.