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Stickler Syndrome - Crossref

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Last Updated: 16 July 2022

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Hearing Outcomes in Stickler Syndrome: Variation Due to COL2A1 and COL11A1

Understanding the variability of hearing phenotypes based on genetic mutation has a major effect on healthcare and long-term care. The goal of this retrospective chart review of pediatric patients with a confirmed diagnosis of SS between January 2003 and December 2018 at a Tertiary pediatric hospital was performed. Results: There were 29 confirmed patients with SS who met the criteria, 16 with type I and 13 with type II, and 13 with type II. 12 out of a total of 13 patients with type II said hearing loss, ranging in severity from mild to severe. Patients in type I were either mild or recovered hearing loss. Conclusion: Patients with type II SS are more likely to experience congenital hearing loss than type I. According to COL11A1 mutation results, the COL11A1 mutation causes more frequent hearing loss than the COL2A1 mutation.

Source link: https://doi.org/10.1177/10556656211029519


Prevention of Blindness in Stickler Syndrome

Stickler syndromes are inherited conditions that result from structural protein abnormalities in the eye, inner ear, and cartilage. Stickler syndrome is the most common cause of childhood retinal detachment. Although retinal detachment surgery in the general population has a high success rate, Stickler syndrome patients' outcomes from surgical repair are also problematic, putting the need for prophylactic intervention into play. Prophylactic retinopexy's effectiveness and safety are shown by cohort comparison studies, which have helped to minimize, but not eliminate, the risk of retinal detachment in Stickler syndrome patients. To minimize the risk of retinal detachment, it is vital that this body of evidence be available to Stickler syndrome patients in order to help them make their own fully informed decision about whether or not they should receive prophylaxis for themselves and especially for their children.

Source link: https://doi.org/10.3390/genes13071150


Autosomal Recessive Stickler Syndrome

Stickler syndrome is a genetic disorder that has a prominent presence in the eye, ear, joints, facial, and palate. We look at the published studies of recessive SS, which include 40 patients from 23 families. High myopia is near-universal, and sensorineural hearing loss is extremely common in patients with type IX or XI collagen genes, although hearing appears to be unaffected in LRP2 and LOXL3 patients, as well as variable in GZF1. The type XI collagen variants, as well as non-collagen genes, are associated with the Cleft palate, but there is no information about type IX collagen variants reported. In 18% of all cases, retina detachment has occurred in 18%, and joint pain has occurred in 15%. With regular ophthalmic examination, this paper reinforces the importance of screening for SS in congenital sensorineural hearing loss, particularly when it is related to myopia, and the need to warn patients and parents of the warning signs of retinal detachment.

Source link: https://doi.org/10.3390/genes13071135


Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

When a family had the Stickler syndrome, or arthro-ophthalmopathy, an autosomal dominant disorder that affects the eyes, ears, joints, and skeleton, an investigation of linkage analysis with restriction fragment length polymorphisms for type II procollagen was carried out. To isolate the allele for type II procollagen that was attributed to the disease, a newly developed method for preparing cosmid clones was used. A single base mutation that modified a CG dinucleotide and converted the codon CGA for arginine changed from alpha 1-732 to TGA was discovered by a single nucleotide and converted the gene's code for arginine at amino acid position alpha 1-732 to TGA, a stop codon. It is clear that the truncated polypeptide synthesized from an allele with a stop codon at alpha 1-732 cannot participate in the manufacturing of type II procollagen, and thus reduces the production of type II procollagen.

Source link: https://doi.org/10.1073/pnas.88.15.6624


Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Stickler syndrome is a rare, medically and molecularly heterogeneous connective tissue disorder. STL is extremely unusual, with only four families with biallelic COL9A3 variants reported to date. COL9A3: Three unrelated families were clinically diagnosed with STL and different novel biallelic loss of function variants.

Source link: https://doi.org/10.1186/s13023-022-02244-6


‘Failure’ of laser prophylaxis in an eye with stickler syndrome

BACKGROUND: Stickler syndrome is one of the most common inherited connective tissue disorders, and it is a common cause of pediatric vision loss in these patients due to a high risk of retinal detachment. Detailed case report: This case report details the clinical course of a ten-year-old boy with Sticklers Syndrome who underwent bilateral peripheral laser prophylaxis. Conclusion: Although the use of laser prophylaxis in Stickler patients is debated, this case shows that even if GRT develops, expansion can be limited.

Source link: https://doi.org/10.15406/mojcr.2021.11.00393


Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1

Stickler syndrome, an inherited connective tissue disorder of collagen, is a chronic connective tissue disorder of collagen. There are few reports of East Asian patients in Korean patients, and no large-scale studies have been done yet. Among 37 genetically confirmed Stickler syndrome patients, 21 types of gene variants were found, of which 12 were novel variants. This is the first large-scale analysis of Koreans with Stickler syndrome, which will expand the range of genetic variations of Stickler syndrome.

Source link: https://doi.org/10.3390/genes12101578


Stickler syndrome – lessons from a national cohort

Stickler syndrome patients and families were impacted by the illness in 2011. The Stickler syndromes, which are the most common cause of retinal detachment in childhood and the most common cause of familial retinal detachment, are included in the spectrum of inherited vitreoretinopathies. It's easy to determine the source of genetic variation in over 95% of cases, including those with deep intronic mutations that would be missed by conventional exome panel analysis and which necessitate complete gene sequencing and supplementary functional analysis to establish pathogenicity. Blindness in particular in children is generally avoidable unless these high-risk groups are identified and appropriate evidence-based prophylaxis are applied.

Source link: https://doi.org/10.1038/s41433-021-01776-8


Auditory dysfunction in type 2 Stickler Syndrome

Abstract Purpose: The aim and location of auditory dysfunction in a large population of type 2 Stickler Syndrome patients is unknown. Type 2 Stickler Syndrome results from a gene mutation in the coding of u03b1-1 type XI pro-collagen, which has been identified in the mouse's human vitreous, cartilage, and cochlea. Methods This is a population survey that used a combination of audiometric, tympanometric, and self-report measures on a group of 65 people with type 2 Stickler Syndrome, according to a genetically diagnosed type 2 Stickler Syndrome. Measures of voice and spatial hearing in sound were similar to those in a non-syndromic group with similar audiometric thresholds. Conclusions Auditory impairment in type 2 Stickler Syndrome is primarily related to cochlear hearing loss of varying degrees among affected individuals. It is therefore likely that type 2 Stickler Syndrome suffers in the auditory periphery, without significant central processing deficits.

Source link: https://doi.org/10.1007/s00405-020-06306-y


Deletions within COL11A1in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)

COL11A1 is a large complex gene with a length of 250 kb and consisting of 68 exons. Many of the mutations that resulted in Stickler or Marshall syndrome alter splice sites and result in exon skipping, which usually does not occur in-frame because of the exon structure of collagen genes. The mutant protein then has a predominant negative effect when co-assemblings with other collagen gene products. Case studies based on Multiplex Ligation-Dependent Probe Amplification, as well as exon amplification and sequencing, has been used to identify patients with Stickler syndrome genetic abnormalities, and we have found six novel deletions that were not found by exon sequencing alone. Conclusion The Exon deletions seem to represent a significant portion of type 2 Stickler syndrome. This finding was previously unknown, so diagnostic testing of COL11A1 should include assays capable of finding both large and small deletions in addition to exon sequencing.

Source link: https://doi.org/10.1186/1471-2350-14-48

* 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