Fibrillin-1 Gene Variant p.Gly1754Ser Associated With Weill-Marchesani Syndrome Type 2: A Case Report Article Swipe

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Parag Tamhankar , Pramila Menon , Shailaja Mane , Aarthi Muthu Kumar ·

YOU? · · 2024 · Open Access · · DOI: https://doi.org/10.7759/cureus.69448

Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by severe short stature, small hands and feet, joint stiffness, eye abnormalities such as microspherophakia, ectopia of lenses, severe myopia, glaucoma, and heart defects. This case study describes a nine-year-old female child with WMS syndrome type 2 and heterozygous pathogenic variant p.Gly1754Ser in the fibrillin-1 gene, identified on whole exome sequencing. Two individuals with WMS with the p.Gly1754Ser variant have been previously reported in the medical literature. The present case is the fourteenth case of WMS type 2 with fibrillin-1 gene mutation in the medical literature, to the best of the author's knowledge.

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Medicine Ectopia lentis Fibrillin Ophthalmology Marfan syndrome Internal medicine

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Type: article
Language: en
Landing Page: http://doi.org/10.7759/cureus.69448
OA Status: diamond
References: 17
Related Works: 10
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DOI: https://doi.org/10.7759/cureus.69448

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Title: Fibrillin-1 Gene Variant p.Gly1754Ser Associated With Weill-Marchesani Syndrome Type 2: A Case Report

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Language: en

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Publication year: 2024

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Publication date: 2024-09-15

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Authors: Parag Tamhankar, Pramila Menon, Shailaja Mane, Aarthi Muthu Kumar

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Landing page: https://doi.org/10.7759/cureus.69448

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Concepts: Medicine, Ectopia lentis, Fibrillin, Ophthalmology, Marfan syndrome, Internal medicine

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abstract_inverted_index.microspherophakia,	24
cited_by_percentile_year
countries_distinct_count	1
institutions_distinct_count	4
citation_normalized_percentile.value	0.19893002
citation_normalized_percentile.is_in_top_1_percent	False
citation_normalized_percentile.is_in_top_10_percent	False