Article
Genetics & Heredity
Arif O. Khan, Lama AlAbdi, Nisha Patel, Rana Helaby, Mais Hashem, Firdous Abdulwahab, Fahad B. AlBadr, Fowzan S. Alkuraya
Summary: Stickler syndrome is a collagenopathy with typical autosomal dominant inheritance, primarily characterized by ocular manifestations such as myopia and lens opacities. Ophthalmologists should be vigilant in suspecting this syndrome in children with relevant clinical features.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Genetics & Heredity
Hong Wu, Songtian Che, Shuchun Li, Yan Cheng, Jun Xiao, Zaoxia Liu
Summary: Stickler syndrome is a connective tissue disorder with symptoms affecting the eyes, skeleton, craniofacies, and inner ear to varying degrees. Exome sequencing identified a pathogenic splicing variant in the COL2A1 gene in a Mongolian family affected with the syndrome.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Review
Genetics & Heredity
Zack Soh, Allan J. Richards, Annie McNinch, Philip Alexander, Howard Martin, Martin P. Snead
Summary: This review article focuses on the autosomal dominant forms of Stickler syndrome, which is associated with conditions like retinal detachment, deafness, cleft palate, and arthritis. Pathogenic variants in COL2A1 usually result in protein haploinsufficiency, while pathogenic variants of type XI collagen typically exert dominant negative effects. The severity of the disease phenotype depends on the location and nature of the mutation, as well as the normal developmental role of the respective protein.
Article
Multidisciplinary Sciences
Till Joscha Demal, Tasja Scholz, Helke Schueler, Jakob Olfe, Anja Froehlich, Fabian Speth, Yskert von Kodolitsch, Thomas S. Mir, Hermann Reichenspurner, Christian Kubisch, Maja Hempel, Georg Rosenberger
Summary: This study reports novel gene mutations in four patients with a MASS-like phenotype, expanding the phenotypic spectrum of type II collagenopathies and suggesting an association between a MASS-like phenotype and various hereditary connective tissue disorders. Further research is needed to explore the pathomechanisms and genotype-phenotype correlations of identified COL2A1 variants.
SCIENTIFIC REPORTS
(2022)
Article
Oncology
Yiou Wang, Yanyan Bian, Xi Chen, Wenwei Qian
Summary: Stickler syndrome is a connective tissue disorder caused by mutations in collagen genes. We report on a male patient with a COL2A1 mutation, presenting with hip abnormalities. Surgical treatment partially improved the patient's symptoms, but the uncorrected deformity may have contributed to unsatisfactory outcomes.
ANNALS OF TRANSLATIONAL MEDICINE
(2022)
Article
Genetics & Heredity
Soon-Il Choi, Se-Joon Woo, Baek-Lok Oh, Jinu Han, Hyun-Taek Lim, Byung-Joo Lee, Kwangsic Joo, Jun-Young Park, Ja-Hyun Jang, Min-Kyung So, Sang-Jin Kim
Summary: This study retrospectively analyzed the genetic characteristics and clinical features of Korean Stickler syndrome patients, identifying 21 types of gene variants with 12 novel variants. Splicing variants were closely associated with retinal detachment, and this is the first large-scale study of Koreans with Stickler syndrome, expanding the spectrum of genetic variations for the syndrome.
Article
Genetics & Heredity
Adam Jacobson, Cagri G. G. Besirli, Brenda L. L. Bohnsack
Summary: Stickler Syndrome is a genetic disorder characterized by ophthalmic and systemic manifestations. COL2A1 mutations are commonly associated with this syndrome, but there is a lack of genotype-phenotype correlations. Further research is needed to understand the molecular basis for phenotypic differences and how they relate to the COL2A1 gene.
Article
Genetics & Heredity
Ying Su, Chun-Qiong Ran, Zhe-Long Liu, Yan Yang, Gang Yuan, Shu-Hong Hu, Xue-Feng Yu, Wen-Tao He
Summary: This article describes a case of a 29-year-old Chinese male with non-ocular Stickler syndrome (OSMED). Compound heterozygous mutations in the COL11A2 gene were detected, including two variants predicted to be splicing mutations. The article highlights the importance of whole-genome sequencing for precise diagnosis and genetic counseling in patients suspected of Stickler syndrome.
FRONTIERS IN GENETICS
(2023)
Article
Otorhinolaryngology
Philip Alexander, Philip Gomersall, Jack Stancel-Lewis, Gregory Scott Fincham, Arabella Poulson, Allan Richards, Annie McNinch, David M. Baguley, Martin Snead
Summary: The study examined auditory dysfunction in individuals with type 2 Stickler Syndrome, finding that 69% had hearing impairment with sensorineural hearing loss being the most common. The hypermobile tympanic membranes were less common compared to type 1 Stickler Syndrome, likely due to collagen abnormalities. Self-report measures showed that speech and spatial hearing difficulties were worse compared to a normal-hearing population but similar to a non-syndromic cohort with similar audiometric thresholds.
EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY
(2021)
Article
Ophthalmology
Suganya Kandeeban, Kaustubh Kandale, Porkodi Periyasamy, Muna Bhende, Pramod Bhende, Mathavan Sinnakaruppan, Sripriya Sarangapani
Summary: The study aimed to describe the utility of next-generation sequencing (NGS) in the genetic analysis of four Indian families with suspected Stickler syndrome. Through genetic analysis, causative gene mutations related to Stickler syndrome were identified in family members. This may be the first report of families with retinal detachment in India.
INDIAN JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Genetics & Heredity
Tara L. Wenger, Jonathan Perkins, Julia Parish-Morris, Anne Hing, Maida L. Chen, Christopher M. Cielo, Dong Li, Elizabeth J. Bhoj, Hakon Hakonarson, Elaine Zackai, Donna M. McDonald-McGinn, Jesse A. Taylor, Oksana Jackson, Kathleen Sie, Randall Bly, John Dahl, Kelly N. Evans
Summary: This study aimed to investigate the differences in cleft palate among different etiologic groups and found that U-shaped cleft palate was associated with a lower risk of mortality. Specific palatal morphology may indicate an underlying genetic syndrome and higher risk of mortality.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Runyi Tian, Ping Tong, Yuhong He, Liyu Zang, Shimin Zhou, Qi Tian
Summary: Stickler syndrome is a multisystemic disorder characterized by ophthalmological and non-ophthalmological abnormalities. This study identified novel pathogenic mutations in the COL2A1 gene causing STL1 and investigated the mechanisms of these mutations. Additionally, the correlation between mutation sites and different regions of COL2A1 were found to be associated with different phenotypes.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Genetics & Heredity
Tatiana Markova, Peter Sparber, Artem Borovikov, Tatiana Nagornova, Elena Dadali
Summary: This study presents a novel case of autosomal recessive Stickler syndrome caused by two previously undescribed mutations in the COL9A3 gene, expanding the mutational and phenotypic spectrum of this syndrome. The clinical features included severe sensorineural hearing loss, high myopia, vitreoretinal degeneration, and early-onset arthropathy of the lower limbs, with radiography revealing mild spondyloepiphyseal dysplasia.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Ophthalmology
Marie Ceska Burdova, Jana Stepankova, Radka Kremlikova Pourova, Gabriela Mahelkova, Martin Hlozanek, Pavel Kozner, Dagmar Dotrelova
Summary: This study evaluated the long-term anatomical and functional outcomes of surgical treatment for retinal complications in children and adolescents with Stickler syndrome. The findings showed that repair of retinal tears and detachment in Stickler syndrome often requires multiple surgeries and long-term comprehensive care.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2023)
Review
Medicine, General & Internal
Majid Moshirfar, Matthew R. Barke, Rachel Huynh, Austin J. Waite, Briana Ply, Yasmyne C. Ronquillo, Phillip C. Hoopes
Summary: Patients with Heritable Disorders of Connective Tissue (HDCTs) seeking refractive surgery for ocular symptoms face limitations and risks, with FDA warnings against LASIK in certain cases. Careful consideration based on individual patient characteristics is necessary when considering surgical options.
JOURNAL OF CLINICAL MEDICINE
(2021)
