Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation
Abstract Background Stickler Syndrome is a rare connective tissue disorder, characterized by clinical, and genetic heterogeneity. The clinical expression is highly variable, including moderate to severe myopia in childhood, hearing loss, facial dysmorphic features, cleft palate, and early osteoarthr...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-09-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.1353 |
| _version_ | 1797301135736832000 |
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| author | Evelise Brizola Maria Gnoli Morena Tremosini Paolo Nucci Sara Bargiacchi Andrea La Barbera Sabrina Giglio Luca Sangiorgi |
| author_facet | Evelise Brizola Maria Gnoli Morena Tremosini Paolo Nucci Sara Bargiacchi Andrea La Barbera Sabrina Giglio Luca Sangiorgi |
| author_sort | Evelise Brizola |
| collection | DOAJ |
| description | Abstract Background Stickler Syndrome is a rare connective tissue disorder, characterized by clinical, and genetic heterogeneity. The clinical expression is highly variable, including moderate to severe myopia in childhood, hearing loss, facial dysmorphic features, cleft palate, and early osteoarthritis. COL2A1, COL11A1, and COL11A2 mutations account of the majority of autosomal dominant Stickler Syndrome and, in particular, a heterozygous mutation in COL11A1 gene is identified in about 10 to 20% of Stickler Syndrome patients. Methods Herein, we report a case of an 8‐year‐ old child with Stickler Syndrome, presenting with early‐onset of myopia with vitreal abnormalities, facial dysmorphic characteristics, and mild hearing loss later in childhood. To identify the underlying genetic cause, Whole Exome Sequencing was carried out for COL11A1 gene. Results A novel de novo heterozygous splice site variant (NM_001854: c.1845 + 5G> C) of the COL11A1 gene, which had not been previously reported, was identified by Whole Exome Sequencing. Conclusion We reported a novel COL11A1 mutation in a child with Stickler Syndrome presenting a phenotype of early‐onset of ocular anomalies and mild hearing loss later in childhood. Our findings confirm the variability of the expression of the disease, even in the contest of the same gene‐related disorder, thus, contributing to improve the knowledge on clinical and molecular basis of this rare disease. |
| first_indexed | 2024-03-07T23:17:06Z |
| format | Article |
| id | doaj.art-8e460f872bfd43ac894500d53163cdf5 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:17:06Z |
| publishDate | 2020-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-8e460f872bfd43ac894500d53163cdf52024-02-21T10:24:50ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-09-0189n/an/a10.1002/mgg3.1353Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutationEvelise Brizola0Maria Gnoli1Morena Tremosini2Paolo Nucci3Sara Bargiacchi4Andrea La Barbera5Sabrina Giglio6Luca Sangiorgi7Department of Rare Skeletal Disorders IRCCS Istituto Ortopedico Rizzoli Bologna ItalyDepartment of Rare Skeletal Disorders IRCCS Istituto Ortopedico Rizzoli Bologna ItalyDepartment of Rare Skeletal Disorders IRCCS Istituto Ortopedico Rizzoli Bologna ItalyDepartment of Clinical Sciences and Community Health University of Milan Milan ItalyMedical Genetics Unit Meyer Children's University Hospital Florence ItalyBiomedical Experimental and Clinical Sciences "Mario Serio" University of Florence Firenze ItalyMedical Genetics Unit Meyer Children's University Hospital Florence ItalyDepartment of Rare Skeletal Disorders & CLIBI Laboratory IRCCS Istituto Ortopedico Rizzoli Bologna ItalyAbstract Background Stickler Syndrome is a rare connective tissue disorder, characterized by clinical, and genetic heterogeneity. The clinical expression is highly variable, including moderate to severe myopia in childhood, hearing loss, facial dysmorphic features, cleft palate, and early osteoarthritis. COL2A1, COL11A1, and COL11A2 mutations account of the majority of autosomal dominant Stickler Syndrome and, in particular, a heterozygous mutation in COL11A1 gene is identified in about 10 to 20% of Stickler Syndrome patients. Methods Herein, we report a case of an 8‐year‐ old child with Stickler Syndrome, presenting with early‐onset of myopia with vitreal abnormalities, facial dysmorphic characteristics, and mild hearing loss later in childhood. To identify the underlying genetic cause, Whole Exome Sequencing was carried out for COL11A1 gene. Results A novel de novo heterozygous splice site variant (NM_001854: c.1845 + 5G> C) of the COL11A1 gene, which had not been previously reported, was identified by Whole Exome Sequencing. Conclusion We reported a novel COL11A1 mutation in a child with Stickler Syndrome presenting a phenotype of early‐onset of ocular anomalies and mild hearing loss later in childhood. Our findings confirm the variability of the expression of the disease, even in the contest of the same gene‐related disorder, thus, contributing to improve the knowledge on clinical and molecular basis of this rare disease.https://doi.org/10.1002/mgg3.1353COL11A1early myopiahearing lossnovel mutationstickler syndrome |
| spellingShingle | Evelise Brizola Maria Gnoli Morena Tremosini Paolo Nucci Sara Bargiacchi Andrea La Barbera Sabrina Giglio Luca Sangiorgi Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation Molecular Genetics & Genomic Medicine COL11A1 early myopia hearing loss novel mutation stickler syndrome |
| title | Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation |
| title_full | Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation |
| title_fullStr | Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation |
| title_full_unstemmed | Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation |
| title_short | Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation |
| title_sort | variable clinical expression of stickler syndrome a case report of a novel col11a1 mutation |
| topic | COL11A1 early myopia hearing loss novel mutation stickler syndrome |
| url | https://doi.org/10.1002/mgg3.1353 |
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