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Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation. | LitMetric

AI Article Synopsis

  • Harboyan syndrome is a rare genetic condition characterized by congenital hereditary endothelial dystrophy (CHED) and progressive sensorineural hearing loss, primarily caused by mutations in the SLC4A11 gene.
  • A study involving eight patients with Harboyan syndrome found that all had cloudy corneas since birth, and the overall corneal graft survival rate after penetrating keratoplasty (PK) was 72.7%.
  • Most patients carried the common c.2264G>A (p.Arg755Gln) mutation, particularly in the Karen tribe, indicating a potential genetic founder effect, while the study noted that SLC4A11 mutations did not affect the onset or severity of hearing loss.

Article Abstract

Harboyan syndrome or corneal dystrophy and progressive deafness (MIM #217400) is characterized by congenital hereditary endothelial dystrophy (CHED) and progressive, sensorineural hearing loss. Mutations in SLC4A11 are responsible for this rare genetic syndrome. Eight patients from seven unrelated families affected with Harboyan Syndrome with mean follow-up of 12.0 ± 0.9 years were thoroughly investigated for the ocular, hearing, and kidney function abnormalities and the outcome of penetrating keratoplasty (PK). Mutation analysis of SLC4A11 was performed. All patients presented with bilateral cloudy corneas since birth. Sensorineural hearing loss was detected in all patients. Seven patients (11 eyes) underwent PK with the median age at surgery of 10.1 years (7.1-22.9). The overall corneal graft survival rate after primary PK was 72.7% (8/11 eyes). The mean graft survival time was 94.6 months (95% CI 83.1-126.0). All patients had unremarkable kidney function. The c.2264G>A (p.Arg755Gln) mutation in SCL4A11 was detected in most patients (87.5%). All unrelated Karen tribe patients had p.Arg755Gln mutation, suggestive of founder effect. We found the allele frequency of this variant in the Karen population to be 0.01. The c.2263C>T (p.Arg755Trp) mutation was found in one patient with mild phenotype and the novel truncating protein mutation c.2127delG (p.Gly710fsx*25) in SCL4A11 was identified in two Thai sisters. Visual outcome and graft survival after PK were satisfactory. Our study shows that all studied patients with SLC4A11 mutations had CHED and sensorineural hearing loss, and SLC4A11 mutations were not related to the onset and severity of hearing loss or outcome of keratoplasty.

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Source
http://dx.doi.org/10.1038/s10038-020-00834-5DOI Listing

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