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
Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis.
Sign Up to like & getrecommendations! Published in 2020 at "Osteoarthritis and cartilage"
DOI: 10.1016/j.joca.2019.12.011
Abstract: OBJECTIVE Spondyloepiphyseal dysplasia, a combination of progressive arthropathy with variable signs of skeletal dysplasia, can be a result of mutations in the collagen, type II, alpha 1 (COL2A1) gene. However, the bone involvement (e.g., density,… read more here.
Keywords: skeletal deterioration; col2a1; spondyloepiphyseal dysplasia; osteoarthritis ... 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
Reduced penetrance in a large Caucasian pedigree with Stickler syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2016.1275018
Abstract: ABSTRACT Background: In a four-generation Caucasian family variably diagnosed with autosomal dominant (AD) Stickler or Wagner disease, commercial gene screening failed to identify a mutation in COL2A1 or VCAN. We utilized linkage mapping and exome… read more here.
Keywords: exome sequencing; col2a1; stickler; analysis ... See more keywords
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