ReviewAmerican journal of medical genetics. Part A2018
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
Review in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.Communications biology · 2022Pooled it
- Higher order interaction analysis quantifies coordination in the epigenome revealing novel biological relationships in Kabuki syndrome.Briefings in bioinformatics · 2024Article
- The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.Investigative ophthalmology & visual science · 2023Article
- Hearing Loss in Stickler Syndrome: An Update.Genes · 2022Review
- Autosomal Recessive Stickler Syndrome.Genes · 2022Review
- Genetic background in late-onset sensorineural hearing loss patients.Journal of human genetics · 2022Article
- Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.Orphanet journal of rare diseases · 2022Article
- Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.Molecular genetics & genomic medicine · 2021Article
- Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.Molecular genetics & genomic medicine · 2021Article
- SOX9-COL9A3-dependent regulation of choroid plexus epithelial polarity governs blood-cerebrospinal fluid barrier integrity.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Article
- Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation.Journal of personalized medicine · 2020Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Stickler syndrome is a connective tissue disorder characterized by hearing loss, ocular anomalies, palatal defects, and skeletal abnormalities. The autosomal dominant form is the most common, but autosomal recessive forms have also been described. We report the second case of autosomal recessive Stickler syndrome due to homozygosity for a loss of function mutation in COL9A3, which encodes the α3 chain of type IX procollagen. The clinical features were similar to the previously described COL9A3 Stickler syndrome family, including moderate to severe sensorineural hearing loss, high myopia, and both tibial and femoral bowing at birth. Radiographs demonstrated abnormal capital femoral epiphyses and mild irregularities of the vertebral endplates. This case further establishes the phenotype associated with mutations in this gene. We suggest that loss of the α3 chain of type IX collagen results in a Stickler syndrome phenotype similar to that of the other autosomal recessive forms caused by mutations in genes encoding the α1 and α2 chains of type IX collagen.
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Registered trials
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.