ArticleEuropean journal of human genetics : EJHG2015
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 20 citations in OpenAlex.
- Whole-exome sequencing for identification of genetic changes in adult-onset posterior polar cataract.Indian journal of ophthalmology · 2026Article
- Genetic analysis of Behçet's disease using whole-exome sequencing and bioinformatics analysis in Korean patients.Frontiers in genetics · 2026Article
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Effects of SIPA1L1 on trabecular meshwork extracellular matrix protein accumulation and cellular phagocytosis in POAG.JCI insight · 2024Article
- Through theGenes · 2024Review
- 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
- Mutations inMolecular vision · 2020Article
- Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.Human genetics · 2019Review
- Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.Annals of neurology · 2019Article
- RNA sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery.Human genetics · 2018Article
- iSyTE 2.0: a database for expression-based gene discovery in the eye.Nucleic acids research · 2018Article
- Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.International journal of ophthalmology · 2018Review
- A 16.7 kb deletion in Sipa1l3 is associated with juvenile cataract in mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2017Article
- Systems biology of lens development: A paradigm for disease gene discovery in the eye.Experimental eye research · 2017Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital cataract (CC) is one of the most important causes for blindness or visual impairment in infancy. A substantial proportion of isolated CCs has monogenic causes. The disease is genetically heterogeneous, and all Mendelian modes of inheritance have been reported. We mapped a locus for isolated CC on 19p13.1-q13.2 in a distantly consanguineous German family with two sisters affected by dense white cataracts. Whole-exome sequencing identified a homozygous nonsense variant c.4489C>T (p.(R1497*)) in SIPA1L3 (signal-induced proliferation-associated 1 like 3) in both affected children. SIPA1L3 encodes a GTPase-activating protein (GAP), which interacts with small GTPases of the Rap family via its Rap-GAP-domain. The suggested role of Rap GTPases in cell growth, differentiation and organization of the cytoskeleton in the human lens, and lens-enriched expression of the murine ortholog gene Sipa1l3 in embryonic mice indicates that this gene is crucial for early lens development. Our results provide evidence that sequence variants in human SIPA1L3 cause autosomal recessive isolated CC and give new insight into the molecular pathogenesis underlying human cataracts.
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