Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review

Nurettin Bayram; Ayşe Kaçar Bayram; Hülya Sevcan Daimagüler; Hormos Salimi Dafsari; Daniel Bamborschke; Gökhan Uyanik; Murat Erdogan; Cemal Özsaygılı; Emine Pangal; İsa Yuvaci; Selim Doğanay; Hakan Gümüş; Hüseyin Per; Heinz Jungbluth; Sebahattin Çırak

doi:10.1177/11206721211021291

Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review

Nurettin Bayram^*, Ayşe Kaçar Bayram, Hülya Sevcan Daimagüler, Hormos Salimi Dafsari, Daniel Bamborschke, Gökhan Uyanik, Murat Erdogan, Cemal Özsaygılı, Emine Pangal, İsa Yuvaci, Selim Doğanay, Hakan Gümüş, Hüseyin Per, Heinz Jungbluth, Sebahattin Çırak

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

Abstract

Purpose: This study aims to present a family with two children with MSS who presented with different ophthalmic features. We also aim to review MSS patients’ ocular manifestations to provide a basis for future clinical trials and improve MSS patients’ ophthalmologic care. Case description: Both patients presented with global developmental delay, microcephaly, cerebellar ataxia, and myopathy. The older sibling had developed bilateral cataracts at the age of six. Her 2 years younger sister interestingly showed bilateral hyperopic refractive error without cataracts yet. Mendeliome sequencing unraveled a novel homozygous frameshift mutation in the SIL1 gene (SIL1, NM_022464.5, c.1042dupG, p.E348Gfs*4), causing MSS. A systematic literature review revealed that cataracts appear in 96% of MSS cases with a mean onset at 3.2 years. Additional frequent ocular features were strabismus (51.6%) and nystagmus (45.2%). Conclusion: SIL1-related MSS is associated with marked clinical variability. Cataracts can develop later than neuromuscular features and cognitive signs. Since cataract is a relatively late finding, patients may refer to ophthalmologists for other reasons such as refractive errors, strabismus, or nystagmus. Molecular genetic testing for SIL1 is essential to facilitate early diagnosis in patients with suspected MSS.

Original language	English
Pages (from-to)	11206721211021291
Journal	European Journal of Ophthalmology
Early online date	2 Jun 2021
DOIs	https://doi.org/10.1177/11206721211021291
Publication status	E-pub ahead of print - 2 Jun 2021

Keywords

SIL1
cataract
children
Marinesco–Sjögren syndrome
myopathy

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10.1177/11206721211021291

Cite this

Bayram, N., Kaçar Bayram, A., Daimagüler, H. S., Salimi Dafsari, H., Bamborschke, D., Uyanik, G., Erdogan, M., Özsaygılı, C., Pangal, E., Yuvaci, İ., Doğanay, S., Gümüş, H., Per, H., Jungbluth, H., & Çırak, S. (2021). Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review. European Journal of Ophthalmology, 11206721211021291. Advance online publication. https://doi.org/10.1177/11206721211021291

@article{f8a93ed8ae9d4548a87ba58425fd4296,

title = "Genotype-phenotype correlations in ocular manifestations of Marinesco–Sj{\"o}gren syndrome: Case report and literature review",

abstract = "Purpose: This study aims to present a family with two children with MSS who presented with different ophthalmic features. We also aim to review MSS patients{\textquoteright} ocular manifestations to provide a basis for future clinical trials and improve MSS patients{\textquoteright} ophthalmologic care. Case description: Both patients presented with global developmental delay, microcephaly, cerebellar ataxia, and myopathy. The older sibling had developed bilateral cataracts at the age of six. Her 2 years younger sister interestingly showed bilateral hyperopic refractive error without cataracts yet. Mendeliome sequencing unraveled a novel homozygous frameshift mutation in the SIL1 gene (SIL1, NM_022464.5, c.1042dupG, p.E348Gfs*4), causing MSS. A systematic literature review revealed that cataracts appear in 96% of MSS cases with a mean onset at 3.2 years. Additional frequent ocular features were strabismus (51.6%) and nystagmus (45.2%). Conclusion: SIL1-related MSS is associated with marked clinical variability. Cataracts can develop later than neuromuscular features and cognitive signs. Since cataract is a relatively late finding, patients may refer to ophthalmologists for other reasons such as refractive errors, strabismus, or nystagmus. Molecular genetic testing for SIL1 is essential to facilitate early diagnosis in patients with suspected MSS.",

keywords = "SIL1, cataract, children, Marinesco–Sj{\"o}gren syndrome, myopathy",

author = "Nurettin Bayram and {Ka{\c c}ar Bayram}, Ay{\c s}e and Daimag{\"u}ler, {H{\"u}lya Sevcan} and {Salimi Dafsari}, Hormos and Daniel Bamborschke and G{\"o}khan Uyanik and Murat Erdogan and Cemal {\"O}zsaygılı and Emine Pangal and İsa Yuvaci and Selim Doğanay and Hakan G{\"u}m{\"u}{\c s} and H{\"u}seyin Per and Heinz Jungbluth and Sebahattin {\c C}ırak",

note = "Funding Information: The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was funded by Deutsche Forschungsgemeinschaft, Germany grant CI 218/1–1 to Dr. Sebahattin Cirak. Dr. Hormos Salimi Dafsari was supported by the Gerok program of the Faculty of Medicine, University of Cologne. Publisher Copyright: {\textcopyright} The Author(s) 2021. Copyright: Copyright 2021 Elsevier B.V., All rights reserved.",

year = "2021",

month = jun,

day = "2",

doi = "10.1177/11206721211021291",

language = "English",

pages = "11206721211021291",

journal = "European Journal of Ophthalmology",

issn = "1120-6721",

publisher = "Wichtig Publishing",

}

Bayram, N, Kaçar Bayram, A, Daimagüler, HS, Salimi Dafsari, H, Bamborschke, D, Uyanik, G, Erdogan, M, Özsaygılı, C, Pangal, E, Yuvaci, İ, Doğanay, S, Gümüş, H, Per, H, Jungbluth, H & Çırak, S 2021, 'Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review', European Journal of Ophthalmology, pp. 11206721211021291. https://doi.org/10.1177/11206721211021291

TY - JOUR

T1 - Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome

T2 - Case report and literature review

AU - Bayram, Nurettin

AU - Kaçar Bayram, Ayşe

AU - Daimagüler, Hülya Sevcan

AU - Salimi Dafsari, Hormos

AU - Bamborschke, Daniel

AU - Uyanik, Gökhan

AU - Erdogan, Murat

AU - Özsaygılı, Cemal

AU - Pangal, Emine

AU - Yuvaci, İsa

AU - Doğanay, Selim

AU - Gümüş, Hakan

AU - Per, Hüseyin

AU - Jungbluth, Heinz

AU - Çırak, Sebahattin

N1 - Funding Information: The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was funded by Deutsche Forschungsgemeinschaft, Germany grant CI 218/1–1 to Dr. Sebahattin Cirak. Dr. Hormos Salimi Dafsari was supported by the Gerok program of the Faculty of Medicine, University of Cologne. Publisher Copyright: © The Author(s) 2021. Copyright: Copyright 2021 Elsevier B.V., All rights reserved.

PY - 2021/6/2

Y1 - 2021/6/2

N2 - Purpose: This study aims to present a family with two children with MSS who presented with different ophthalmic features. We also aim to review MSS patients’ ocular manifestations to provide a basis for future clinical trials and improve MSS patients’ ophthalmologic care. Case description: Both patients presented with global developmental delay, microcephaly, cerebellar ataxia, and myopathy. The older sibling had developed bilateral cataracts at the age of six. Her 2 years younger sister interestingly showed bilateral hyperopic refractive error without cataracts yet. Mendeliome sequencing unraveled a novel homozygous frameshift mutation in the SIL1 gene (SIL1, NM_022464.5, c.1042dupG, p.E348Gfs*4), causing MSS. A systematic literature review revealed that cataracts appear in 96% of MSS cases with a mean onset at 3.2 years. Additional frequent ocular features were strabismus (51.6%) and nystagmus (45.2%). Conclusion: SIL1-related MSS is associated with marked clinical variability. Cataracts can develop later than neuromuscular features and cognitive signs. Since cataract is a relatively late finding, patients may refer to ophthalmologists for other reasons such as refractive errors, strabismus, or nystagmus. Molecular genetic testing for SIL1 is essential to facilitate early diagnosis in patients with suspected MSS.

AB - Purpose: This study aims to present a family with two children with MSS who presented with different ophthalmic features. We also aim to review MSS patients’ ocular manifestations to provide a basis for future clinical trials and improve MSS patients’ ophthalmologic care. Case description: Both patients presented with global developmental delay, microcephaly, cerebellar ataxia, and myopathy. The older sibling had developed bilateral cataracts at the age of six. Her 2 years younger sister interestingly showed bilateral hyperopic refractive error without cataracts yet. Mendeliome sequencing unraveled a novel homozygous frameshift mutation in the SIL1 gene (SIL1, NM_022464.5, c.1042dupG, p.E348Gfs*4), causing MSS. A systematic literature review revealed that cataracts appear in 96% of MSS cases with a mean onset at 3.2 years. Additional frequent ocular features were strabismus (51.6%) and nystagmus (45.2%). Conclusion: SIL1-related MSS is associated with marked clinical variability. Cataracts can develop later than neuromuscular features and cognitive signs. Since cataract is a relatively late finding, patients may refer to ophthalmologists for other reasons such as refractive errors, strabismus, or nystagmus. Molecular genetic testing for SIL1 is essential to facilitate early diagnosis in patients with suspected MSS.

KW - SIL1

KW - cataract

KW - children

KW - Marinesco–Sjögren syndrome

KW - myopathy

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U2 - 10.1177/11206721211021291

DO - 10.1177/11206721211021291

M3 - Article

C2 - 34075802

AN - SCOPUS:85107228830

SN - 1120-6721

SP - 11206721211021291

JO - European Journal of Ophthalmology

JF - European Journal of Ophthalmology

ER -

Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review

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