A Chinese family with cat eye syndrome and abnormality of eye movement: First case report.
1.35 mb tetrasomy
abnormality of eye movement
cat eye syndrome (CES)
early diagnosis
first report
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2023
2023
Historique:
received:
25
01
2023
accepted:
20
03
2023
medline:
28
4
2023
pubmed:
28
4
2023
entrez:
28
4
2023
Statut:
epublish
Résumé
Cat eye syndrome (CES) is a rare disease with a wide spectrum of phenotypic variability that is observed in 1:150,000 newborns. CES is characterized clinically by the combination of iris coloboma, anal atresia, and preauricular tags and/or pits. Many eye malformations have been reported to be associated with CES, such as iris and chorioretinal coloboma. However, an abnormality of eye movement has not been previously reported. We report on a Chinese family carrying a 22q11.1-q11.21 duplication of 1.7Mb tetrasomy (chr22:16,500,000-18,200,000, hg38) in two generations. Based on the proband and her father's clinical manifestations, including ophthalmological examination, cytogenetic analysis, FISH, CNV-seq, and WES, the diagnosis of CES with an abnormality of eye movement was made. Our findings broadened the symptom spectrum of CES syndrome and laid the foundation for pathogenesis, diagnostic targets, and drug research on the abnormality of eye movement, and were helpful for early diagnosis and intervention of CES.
Sections du résumé
Background
UNASSIGNED
Cat eye syndrome (CES) is a rare disease with a wide spectrum of phenotypic variability that is observed in 1:150,000 newborns. CES is characterized clinically by the combination of iris coloboma, anal atresia, and preauricular tags and/or pits. Many eye malformations have been reported to be associated with CES, such as iris and chorioretinal coloboma. However, an abnormality of eye movement has not been previously reported.
Case presentation
UNASSIGNED
We report on a Chinese family carrying a 22q11.1-q11.21 duplication of 1.7Mb tetrasomy (chr22:16,500,000-18,200,000, hg38) in two generations. Based on the proband and her father's clinical manifestations, including ophthalmological examination, cytogenetic analysis, FISH, CNV-seq, and WES, the diagnosis of CES with an abnormality of eye movement was made.
Conclusion
UNASSIGNED
Our findings broadened the symptom spectrum of CES syndrome and laid the foundation for pathogenesis, diagnostic targets, and drug research on the abnormality of eye movement, and were helpful for early diagnosis and intervention of CES.
Identifiants
pubmed: 37114001
doi: 10.3389/fped.2023.1145183
pmc: PMC10126520
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1145183Informations de copyright
© 2023 Lu, Shen, Zheng, Zhang, Liu, Qi, Huang and Shen.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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