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Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Stickler syndrome is a variable autosomal dominant disorder, with characteristic flattened facies, often with cleft palate, severe myopia with frequent retinal detachment, and early osteoarthritis. It is most often caused by mutations in COL2A1, COL11A1 or COL11A2, affecting collagen type II or type X. However, other forms exist, including some rare recessive forms. All forms involve mutations in a collagen gene.
Genetics in Otology and Neurotology
Published in John C Watkinson, Raymond W Clarke, Louise Jayne Clark, Adam J Donne, R James A England, Hisham M Mehanna, Gerald William McGarry, Sean Carrie, Basic Sciences Endocrine Surgery Rhinology, 2018
Stickler syndrome comprises of progressive sensorineural hearing loss, cleft palate, abnormal development of the epiphysis, vertebral abnormalities and osteoarthritis. Three types are recognized, based on the molecular genetic defect: STL1 (COL2A1), STL2 (COL11A1) and STL3 (COL11A2). STL1 and STL2 are characterized by severe myopia, which predisposes to retinal detachment; this aspect of the phenotype is absent in STL3 because COL11A2 is not expressed in the eye.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Genetics: heterogeneous disorder that can result from autosomal recessive loss of function mutations in COL11A1 or from either recessive or dominant mutations in COL11A2. COL11A1 encodes the proα1(11) chain and COL11A2 encodes the proα2(11) chain of type 11 collagen.
Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene
Published in Ophthalmic Genetics, 2022
Mamika Asano, Katsuhiko Yokoyama, Kazuma Oku, Itsuka Matsushita, Kenichi Kimoto, Toshiaki Kubota, Hiroyuki Kondo
Mutations in the procollagen genes, COL2A1, COL11A1, COL11A2, COL9A1, COL9A2 and COL9A3 cause Stickler syndrome, and the COL2A1, COL11A1 and COL11A2 genes are responsible for autosomal dominant Stickler syndrome (4). Mutations in the COL2A1 gene are the most common cause of Stickler syndrome, and more than 80% of the mutations are truncation mutations, i.e., nonsense, insertion, deletion, and splicing mutations that lead to haploinsufficiency (Human Gene Mutation Database, HGMD; https://my.qiagendigitalinsights.com/bbp/view/hgmd/pro/start.php). Patients with truncation mutations in the COL2A1 gene show characteristic membranous structures in the vitreous (5,6). On the other hand, some of the missense mutations in the COL2A1 gene have been reported to cause specific alterations of the vitreous due to dominant-negative effects (5). As best we know, there are no reports on whether eyes with missense mutations have specific retinal findings.
The uncommon occurrence of two common inherited disorders in a single patient: a mini case series
Published in Ophthalmic Genetics, 2018
Francisca Zuazo, Alina V. Dumitrescu
SS is a hereditary arthro-ophthalmopathy (4) which can present with multi-system involvement and variable phenotypes (2) that develops over a life-time (8) and is caused by a defective collagen production. Signs include congenital high myopia, retinal detachment, hearing loss, premature osteoarthritis and craniofacial abnormalities (2). It is characterized by a flat face, cleft palate, and small chin (9). The pathognomonic feature of SS patients is an irregular vitreous architecture on exam due to abnormal embryological development (10). Type 1 SS is due to mutations in type II collagen gene COL2A1 (MIM# 120140) and usually presents a membranous congenital vitreous abnormality. Type 2 SS, due to mutations in COL11A1 (MIM# 120280), encoding for the α1 chain of type XI collagen, is associated with beaded congenital vitreous anomaly. Mutations in the gene coding for the α2 chain of type XI collagen, COL11A2 (MIM# 120290) may result in Type 3 SS which is distinguished by cleft palate, deafness, and arthropathy, but normal vitreous and ocular structures (9,10).
High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1
Published in Current Eye Research, 2021
Shirel Rossenwasser-Weiss, Naama Orenstein, Alon Zahavi, Nitza Goldenberg-Cohen
Three subtypes of autosomal dominant Stickler syndrome have been described. Type 1 (membranous) and type 2 (beaded) are associated with a unique vitreous appearance, and type 3 does not have ocular manifestations. Type 1, the most common type, is caused by heterozygous mutations in the gene encoding type II collagen (COL2A1; MIM: 108300),10 and type 2 is caused by a heterozygous mutation in the gene encoding the α1 chain of type XI collagen (COL11A1; MIM: 604841).11,12 Patients with type 3 have a mutation in the gene encoding the α2 chain of type XI collagen (COL11A2) which is not expressed in the eye (MIM: 184840).1