Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1620
Abstract: Stickler syndrome (STL) is a clinically variable and genetically heterogeneous collagenopathy characterized by ophthalmic, auditory, skeletal, and orofacial abnormalities. STL is mainly inherited in an autosomal dominant pattern with mutations in the COL2A1, COL11A1, and… read more here.
Keywords: compound heterozygous; autosomal recessive; stickler syndrome; heterozygous mutations ... See more keywords
Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1781
Abstract: BACKGROUND Stickler syndrome is a group of connective tissue disorders that can affect eye (myopia, cataract, and retinal detachment), skeleton (spondyloepiphyseal dysplasia and precocious arthritis), craniofacies (midfacial under development and cleft palate), and inner ear… read more here.
Keywords: col2a1; stickler syndrome; family; case report ... See more keywords
Stickler syndrome in children: a radiological review.
Sign Up to like & getrecommendations! Published in 2018 at "Clinical radiology"
DOI: 10.1016/j.crad.2018.03.004
Abstract: AIM To review the radiological findings of the largest cohort to date of paediatric patients with Stickler syndrome, all with confirmed molecular genetic analysis and sub-typing. PATIENTS AND METHODS It is understood that the National… read more here.
Keywords: stickler; syndrome children; stickler syndrome; radiological review ... See more keywords
Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum
Sign Up to like & getrecommendations! Published in 2017 at "Human Genome Variation"
DOI: 10.1038/hgv.2017.40
Abstract: Marshall–Stickler syndrome represents a spectrum of inherited connective tissue disorders affecting the ocular, auditory, and skeletal systems. The syndrome is caused by mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes. In this study,… read more here.
Keywords: col11a1; col2a1; spectrum; stickler syndrome ... See more keywords
Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene
Sign Up to like & getrecommendations! Published in 2020 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2020.1861309
Abstract: ABSTRACT Background: Stickler syndrome is a hereditary disorder of collagen tissues causing ocular, auditory, orofacial, and joint manifestations. Ocular findings typically include vitreous degeneration, high myopia, retinal detachment, and cataract. Many subjects demonstrate sensorineural or… read more here.
Keywords: mutations col9a2; autosomal recessive; stickler syndrome; visual acuity ... See more keywords
Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2068044
Abstract: ABSTRACT Background The aim is to determine the retinal changes in patients with Stickler syndrome caused by a p.R565C missense mutation of the COL2A1 gene. Methods We reviewed the clinical records of 10 eyes of… read more here.
Keywords: degeneration; syndrome caused; missense mutation; mutation col2a1 ... See more keywords
LASER PROPHYLAXIS IN STICKLER SYNDROME
Sign Up to like & getrecommendations! Published in 2022 at "Retina"
DOI: 10.1097/iae.0000000000003634
Abstract: Individuals with Stickler syndrome are at increased risk of developing giant retinal tears and retinal detachments. Findings from 113 eyes (63 patients) show that 360° retinal laser prophylaxis can help reduce the risk of developing… read more here.
Keywords: laser prophylaxis; risk; stickler syndrome;
A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.17187
Abstract: Stickler syndrome type I (STL1, MIM 108300) is characterized by ocular, auditory, skeletal and orofacial manifestations. Nonsyndromic ocular STL1 (MIM 609508) characterized by predominantly ocular features is a subgroup of STL1, and it is inherited… read more here.
Keywords: syndrome type; family; nonsyndromic ocular; col2a1 ... See more keywords
Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "European journal of ophthalmology"
DOI: 10.1177/11206721231169309
Abstract: This clinical report describes a family with both Marfan and ocular-only Stickler syndromes. We report 2 cases of ocular-only Stickler syndrome and 2 cases of Marfan syndrome concurrent with ocular-only Stickler syndrome. Type 1 Stickler… read more here.
Keywords: marfan syndrome; ocular stickler; stickler syndrome; stickler ... See more keywords
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-022-02244-6
Abstract: Background Stickler syndrome (STL) is a rare, clinically and molecularly heterogeneous connective tissue disorder. Pathogenic variants occurring in a variety of genes cause STL, mainly inherited in an autosomal dominant fashion. Autosomal recessive STL is… read more here.
Keywords: identification three; autosomal recessive; three novel; stickler syndrome ... See more keywords
Progressive degeneration of the retina in Loxl3 mutant mouse model of Stickler syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Developmental biology"
DOI: 10.2139/ssrn.4207630
Abstract: Stickler syndrome is a multisystem collagenopathy with affected individuals exhibiting a high rate of ocular complications. Lysyl oxidase-like 3 (LOXL3) is a human disease gene candidate with a critical role in catalyzing collagen crosslinking. A… read more here.
Keywords: loxl3 mutant; loxl3; model stickler; mouse model ... See more keywords