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Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.
Mol Genet Genomic Med. 2020 09; 8(9):e1353.MG

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.

Authors+Show Affiliations

Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Firenze, Italy.Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy. Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Firenze, Italy. Excellence Centre for Research, Transfer and High Education for the development of DE NOVO Therapies (DENOTHE), Florence, Italy.Department of Rare Skeletal Disorders & CLIBI Laboratory, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

32558342

Citation

Brizola, Evelise, et al. "Variable Clinical Expression of Stickler Syndrome: a Case Report of a Novel COL11A1 Mutation." Molecular Genetics & Genomic Medicine, vol. 8, no. 9, 2020, pp. e1353.
Brizola E, Gnoli M, Tremosini M, et al. Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation. Mol Genet Genomic Med. 2020;8(9):e1353.
Brizola, E., Gnoli, M., Tremosini, M., Nucci, P., Bargiacchi, S., La Barbera, A., Giglio, S., & Sangiorgi, L. (2020). Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation. Molecular Genetics & Genomic Medicine, 8(9), e1353. https://doi.org/10.1002/mgg3.1353
Brizola E, et al. Variable Clinical Expression of Stickler Syndrome: a Case Report of a Novel COL11A1 Mutation. Mol Genet Genomic Med. 2020;8(9):e1353. PubMed PMID: 32558342.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation. AU - Brizola,Evelise, AU - Gnoli,Maria, AU - Tremosini,Morena, AU - Nucci,Paolo, AU - Bargiacchi,Sara, AU - La Barbera,Andrea, AU - Giglio,Sabrina, AU - Sangiorgi,Luca, Y1 - 2020/06/17/ PY - 2020/04/10/received PY - 2020/05/12/revised PY - 2020/05/19/accepted PY - 2020/6/20/pubmed PY - 2021/5/21/medline PY - 2020/6/20/entrez KW - COL11A1 KW - early myopia KW - hearing loss KW - novel mutation KW - stickler syndrome SP - e1353 EP - e1353 JF - Molecular genetics & genomic medicine JO - Mol Genet Genomic Med VL - 8 IS - 9 N2 - 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. SN - 2324-9269 UR - https://www.unboundmedicine.com/medline/citation/32558342/Variable_clinical_expression_of_Stickler_Syndrome:_A_case_report_of_a_novel_COL11A1_mutation_ L2 - https://doi.org/10.1002/mgg3.1353 DB - PRIME DP - Unbound Medicine ER -