Pleiotropy of a Stickler syndrome genotype

European Journal of Ophthalmology ◽

10.1177/11206721211035611 ◽

2021 ◽

pp. 112067212110356

Author(s):

Ahmad Baiyasi ◽

Joshua Barbosa ◽

Anthony Parendo ◽

Xihui Lin

Keyword(s):

Alternative Splicing ◽

Retinitis Pigmentosa ◽

Syndrome Type ◽

Stickler Syndrome ◽

Col2a1 Gene ◽

A Site

Purpose: To report a case of pleiotropy in the COL2A1 gene typically associated with Stickler Syndrome Type 1. Observations: A patient with a confirmed mutation of the COL2A1 gene presented with an isolated retinitis pigmentosa phenotype. Conclusions: The mutated COL2A1 gene in Stickler Syndrome Type 1 represents a site of pleiotropy, highlighting a change in phenotype across the same genotype potentially due to tissue alternative splicing.

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A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature

Journal of Medical Case Reports ◽

10.1186/s13256-017-1396-y ◽

2017 ◽

Vol 11 (1) ◽

Cited By ~ 11

Author(s):

Yousuke Higuchi ◽

Kosei Hasegawa ◽

Miho Yamashita ◽

Hiroyuki Tanaka ◽

Hirokazu Tsukahara

Keyword(s):

Case Report ◽

Novel Mutation ◽

Syndrome Type ◽

Stickler Syndrome ◽

Review Of The Literature ◽

Col2a1 Gene

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Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I

Genes ◽

10.3390/genes13010137 ◽

2022 ◽

Vol 13 (1) ◽

pp. 137

Author(s):

Tatyana Markova ◽

Vladimir Kenis ◽

Evgeniy Melchenko ◽

Darya Osipova ◽

Tatyana Nagornova ◽

...

Keyword(s):

Clinical Manifestations ◽

Normal Growth ◽

Type I ◽

Syndrome Type ◽

Stickler Syndrome ◽

Genetic Characteristics ◽

Col2a1 Gene ◽

Skeletal Dysplasias ◽

Spondyloepiphyseal Dysplasia ◽

Novel Variants

The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic mechanisms and prognosis. We presented the clinical and genetic characteristics of 60 Russian pediatric patients with type II collagenopathies caused by previously described and newly identified variants in the COL2A1 gene. Diagnosis confirmation was carried out by new generation sequencing of the target panel with subsequent validation of the identified variants using automated Sanger sequencing. It has been shown that clinical forms of spondyloepiphyseal dysplasias predominate in childhood, both with more severe clinical manifestations (58%) and with unusual phenotypes of mild forms with normal growth (25%). However, Stickler syndrome, type I was less common (17%). In the COL2A1 gene, 28 novel variants were identified, and a total of 63% of the variants were found in the triple helix region resulted in glycine substitution in Gly-XY repeats, which were identified in patients with clinical manifestations of congenital spondyloepiphyseal dysplasia with varying severity, and were not found in Stickler syndrome, type I and Kniest dysplasia. In the C-propeptide region, five novel variants leading to the development of unusual phenotypes of spondyloepiphyseal dysplasia have been identified.

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A NOVEL MUTATION IN INTRON 11 OF THE COL2A1 GENE IN A PATIENT WITH TYPE 1 STICKLER SYNDROME

Retina ◽

10.1097/00006982-200601000-00019 ◽

2006 ◽

Vol 26 (1) ◽

pp. 106-109 ◽

Cited By ~ 3

Author(s):

L LEUNG ◽

J C. HYLAND ◽

A YOUNG ◽

M F. GOLDBERG ◽

J T. HANDA

Keyword(s):

Novel Mutation ◽

Stickler Syndrome ◽

Col2a1 Gene

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Stickler syndrome in the Czech Republic: phenotypic variability and genetic heterogeneity

Otorinolaryngologie a foniatrie ◽

10.48095/ccorl202139 ◽

2021 ◽

Vol 70 (1) ◽

pp. 39-46

Author(s):

Jana Čopíková ◽

Rami Katra ◽

Radka Kremlíková Pourová

Keyword(s):

Genetic Heterogeneity ◽

Risk Estimation ◽

Phenotypic Variability ◽

Stickler Syndrome ◽

Col2a1 Gene ◽

The Family ◽

Flat Profile ◽

Collagen Genes

Stickler syndrome (STL) is a progressive multisystemic disorder of connective tissue with an incidence of 1:7,500 newborns, which is probably underestimated due to its considerable clinical and genetic heterogeneity. STL symptoms include cleft palate or the Pierre-Robin sequence, hearing and/ or vision impairment, namely early high myopia and spontaneous retinal detachment, skeletal dysplasia, and a characteristic facial appearance, including a flat profile, protruding eyes, and micrognathia. STL symptoms show high inter- and even intrafamilial phenotypical variability. Variants in seven different collagen genes can cause STL. Autosomal dominant (AD) type 1 caused by a defect in the COL2A1 gene is the most common form of STL (80–90%); AD type 2 (involving COL11A1 gene defects) is much less common (10–20%). The third AD type and all autosomal recessive types are extremely rare. A genetically confirmed diagnosis of STL facilitates early treatment, prevention, and an accurate genetic risk estimation of STL in the family.

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