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Peer-reviewedCC BY-NCBeyoglu eye journal

A Rare Homozygous Synonymous Variant in the ECM1 Gene in a Lipoid Proteinosis Patient.

  • Metehan Simsek1
  • Husna Topcu2
  • Kubra Serefoglu Cabuk3
  • Pelin Ozyavuz Cubuk4
  • Erva Bengu Balaban5
  • Alp Peker6
  • Mehmet Goksel Ulas7
  • Ayse Cetin Efe7
7 affiliations
  1. 1Department of Ophthalmology, Dogubayazit Dr. Yasar Eryilmaz State Hospital, Agri, Türkiye.
  2. 2Department of Ophthalmology, Osmangazi Aritmi Hospital, Bursa, Türkiye.
  3. 3Department of Ophthalmology, Eye and Body Clinic, Istanbul, Türkiye.
  4. 4Department of Medical Genetics, University of Health Sciences, Haseki Training and Research Hospital, Istanbul, Türkiye.
  5. 5Department of Pathology, University of Health Sciences, Haydarpasa Numune Training and Research Hospital, Istanbul, Türkiye.
  6. 6Department of Medical Genetics, Ege University, Izmir, Türkiye.
  7. 7Department of Ophthalmology, University of Health Sciences, Beyoglu Eye Training and Research Hospital, Istanbul, Türkiye.
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Abstract

Lipoid proteinosis (LP) is a rare autosomal recessive disorder resulting from mutations in the ECM1 gene and characterized by mucocutaneous thickening and deposition of hyaline material. We present a 10-year-old male with hoarseness, moniliform blepharosis, oral mucosal nodules, and cutaneous lesions. Histopathology showed PAS-positive hyaline material deposition. Genetic analysis by next-generation sequencing identified a homozygous synonymous variation, ECM1 c.879G>A (p.Ser293=), which has not been previously reported in a homozygous form. Segregation analysis showed heterozygosity in both parents. In accordance with ACMG guidelines, the variant meets criteria PS4, PM2, PM3, PP3, and PP4, supporting its reclassification as pathogenic. This case highlights the diagnostic value of combining clinical, histological, and genomic data, especially in the evaluation of variations of uncertain significance. Genotyping in patients clinically and histopathologically compatible with LP is crucial to inform disease management and enhance understanding of its genetic background.

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Cite

BibTeXRIS
BibTeX
@article{simsek2026rare,
  title = {{A Rare Homozygous Synonymous Variant in the ECM1 Gene in a Lipoid Proteinosis Patient.}},
  author = {Metehan Simsek and Husna Topcu and Kubra Serefoglu Cabuk and Pelin Ozyavuz Cubuk and Erva Bengu Balaban and Alp Peker and Mehmet Goksel Ulas and Ayse Cetin Efe},
  journal = {Beyoglu eye journal},
  year = {2026},
  month = oct,
  doi = {10.14744/bej.2026.46343},
  url = {https://europepmc.org/article/MED/42898511},
  note = {CC BY-NC},
}
RIS
TY  - JOUR
TI  - A Rare Homozygous Synonymous Variant in the ECM1 Gene in a Lipoid Proteinosis Patient.
AU  - Metehan Simsek
AU  - Husna Topcu
AU  - Kubra Serefoglu Cabuk
AU  - Pelin Ozyavuz Cubuk
AU  - Erva Bengu Balaban
AU  - Alp Peker
AU  - Mehmet Goksel Ulas
AU  - Ayse Cetin Efe
PY  - 2026
DA  - 2026/10/01
JO  - Beyoglu eye journal
DO  - 10.14744/bej.2026.46343
UR  - https://europepmc.org/article/MED/42898511
AB  - Lipoid proteinosis (LP) is a rare autosomal recessive disorder resulting from mutations in the ECM1 gene and characterized by mucocutaneous thickening and deposition of hyaline material. We present a 10-year-old male with hoarseness, moniliform blepharosis, oral mucosal nodules, and cutaneous lesions. Histopathology showed PAS-positive hyaline material deposition. Genetic analysis by next-generation sequencing identified a homozygous synonymous variation, ECM1 c.879G>A (p.Ser293=), which has not been previously reported in a homozygous form. Segregation analysis showed heterozygosity in both parents. In accordance with ACMG guidelines, the variant meets criteria PS4, PM2, PM3, PP3, and PP4, supporting its reclassification as pathogenic. This case highlights the diagnostic value of combining clinical, histological, and genomic data, especially in the evaluation of variations of uncertain significance. Genotyping in patients clinically and histopathologically compatible with LP is crucial to inform disease management and enhance understanding of its genetic background.
SN  - 2459-1777
SN  - 2587-0394
ER  -