Deletion of exon 4 of the in a child with Axenfeld-Rieger syndrome.

Ophthalmic Genet

Department of Medical, Shanghai Fujungenetics Biotechnology Co., Ltd., Shanghai, China.

Published: December 2024

AI Article Synopsis

  • - Axenfeld-Rieger syndrome (ARS) is a genetic disorder with eye and systemic symptoms, showing variability among patients; this study presents two cases (a boy and his mother) with a new genetic variant linked to ARS.
  • - The proband, a 3-month-old boy, exhibited several abnormalities including eye development issues, skin and dental problems, and a heart condition, while his mother has been blind since age 12; genetic testing revealed a specific deletion in their DNA.
  • - The findings indicate that this deletion leads to ARS phenotype type I, highlighting that certain genetic mutations in the affected gene are common causes of the disorder, thus improving understanding of ARS manifestations.

Article Abstract

Background: Axenfeld-Rieger syndrome (ARS, OMIM:602482) is a genetic disease characterized by ocular and systemic features. Clinical features of ARS are highly variable among patients and associated with mutations of human and genes. Herein, we present an ARS in two cases (proband and his mother) with a novel variant in the .

Methods: A 3-month-old boy was admitted with an abnormal eye development at birth. Physical examination and ophthalmologic examination findings revealed an abnormal development of the anterior segments, ectropion of redundant skin in the umbilicus, single-sided deafness, teeth eruption failure, patent foramen ovale, and a mid-facial flattening. The proband's mother has been blind since the age of 12. We conducted genetic tests for the family via whole exome sequencing (WES) and quantitative PCR (qPCR) to identify the genetic etiology in the family. We also conducted a retrospective review of the ARS type I phenotype caused by the mutations.

Results: WES and qPCR results of the proband and his parents suggested that both the child and his mother carry a 1.31kbp deletion (chr4: g.111538559_111539864del [GRCh37]) spanned the exon 4 of , resulting in the typical and rare phenotype of ARS type I. It can conclude that truncating variants in the exon 3-4 of are the more common mechanism to cause the malfunction of the gene with a broader phenotypic spectrum.

Conclusion: The study has filled in a new clinical manifestation of the and enriched the phenotype of ARS. The retrospective analysis of phenotype of mutations provided a comprehensive understanding of the disease.

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http://dx.doi.org/10.1080/13816810.2024.2414901DOI Listing

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Deletion of exon 4 of the in a child with Axenfeld-Rieger syndrome.

Ophthalmic Genet

December 2024

Department of Medical, Shanghai Fujungenetics Biotechnology Co., Ltd., Shanghai, China.

Article Synopsis
  • - Axenfeld-Rieger syndrome (ARS) is a genetic disorder with eye and systemic symptoms, showing variability among patients; this study presents two cases (a boy and his mother) with a new genetic variant linked to ARS.
  • - The proband, a 3-month-old boy, exhibited several abnormalities including eye development issues, skin and dental problems, and a heart condition, while his mother has been blind since age 12; genetic testing revealed a specific deletion in their DNA.
  • - The findings indicate that this deletion leads to ARS phenotype type I, highlighting that certain genetic mutations in the affected gene are common causes of the disorder, thus improving understanding of ARS manifestations.
View Article and Find Full Text PDF

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