A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers

Arce-Gonzalez, Rocio; Chacón‐Camacho, Oscar F.; Ordoñez-Labastida, Vianey; Graue-Hernández, Enrique O; Navas-Pérez, Alejandro; Ruíz, Juan-Carlos

doi:10.1007/s10792-022-02481-5

Cited by 3 publications

(2 citation statements)

References 26 publications

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“…BCS patients often present with a thin, spherical cornea and scleral discolouration [ 10 , 11 ]. In addition, some patients may be complicated with other systemic symptoms, such as frequent fractures and excessive flexion and extension of the joints [ 5 , 10 , 12 ]. Early diagnosis of BCS mainly depends on gene detection because of its occult onset.…”

Section: Discussionmentioning

confidence: 99%

Brittle cornea syndrome: A novel mutation

Geng,

Zhu,

et al. 2024

Heliyon

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Section: Discussionmentioning

confidence: 99%

Brittle cornea syndrome: A novel mutation

Geng,

Zhu,

et al. 2024

Heliyon

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“…The genetic study highlights the presence of a missense variant p.(Thr3116Ile) in the ZNF469 gene in heterozygosis in both patients (father and son). A case has been reported where a male with a homozygous variant in the ZNF469 gene had brittle cornea syndrome, and his sons with the same variant in heterozygosis exhibited topographic indices compatible with keratoconus [47]. The fact that the gene is mutated in the OFT-00242 family and the extensive literature on the correlation between variants in ZNF469 and the phenotype of keratoconus seem to suggest that the gene is involved in its development [1,48].…”

mentioning

confidence: 99%

Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus

González-Atienza,

Sánchez-Cazorla,

Villoldo-Fernández

et al. 2023

Genes

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Keratoconus is a corneal dystrophy that is one of the main causes of corneal transplantation and for which there is currently no effective treatment for all patients. The presentation of this disease in pediatric age is associated with rapid progression, a worse prognosis and, in 15–20% of cases, the need for corneal transplantation. It is a multifactorial disease with genetic variability, which makes its genetic study difficult. Discovering new therapeutic targets is necessary to improve the quality of life of patients. In this manuscript, we present the results of whole-exome sequencing (WES) of 24 pediatric families diagnosed at the University Hospital La Paz (HULP) in Madrid. The results show an oligogenic inheritance of the disease. Genes involved in the structure, function, cell adhesion, development and repair pathways of the cornea are proposed as candidate genes for the disease. Further studies are needed to confirm the involvement of the candidate genes described in this article in the development of pediatric keratoconus.

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