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STICKLER Syndrome - PubAg

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Last Updated: 16 October 2021

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Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment

Stickler syndrome is a connective tissue disorder that impacts several systems, consisting of the aesthetic system. Seven genes were reported to trigger Stickler syndrome in patients with different phenotypes. Forty-two probands identified with Stickler syndrome were consisted of. Pathogenic anomalies were found in 35 probands: 27 probands had COL2A1 mutations, and eight probands had COL11A1 anomalies. The anomaly features of probands with high nearsightedness or retinal detachment showed that the probands had a high frequency of COL2A1 anomalies, truncational anomalies, and de novo anomalies.

Source link: https://pubag.nal.usda.gov/catalog/7078512


Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia

Stickler syndrome is a hereditary connective cells condition affecting bones, eyes, and hearing. Type 2 SS and the SS variant otospondylomegaepiphyseal dysplasia are caused by unhealthy versions in COL11A1 and COL11A2, respectively. We report four formerly unpublished intronic variations in COL11A1 and COL11A2 recognized in type 2 SS/OSMED people. We showed that all variations can induce exon in-frame deletions, which result in the synthesis of much shorter collagen XI α1 or 2 chains. In final thought, this study recommends that these alternative COL11A1 and COL11A2 records may lead to aberrant triple helix collagen.

Source link: https://pubag.nal.usda.gov/catalog/7216451

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions