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/10.1080/13816810.2024.2414901 | DOI Listing |
Quant Imaging Med Surg
December 2024
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
Background: Anterior segment dysgenesis (ASD) encompasses a range of congenital disorders affecting the development of the eye's anterior segment, often leading to significant visual impairment and glaucoma. Although numerous studies have focused on the genetic basis of ASD, few have comprehensively compared the clinical features across ASD subtypes. This study aims to address this gap by describing and comparing the clinical characteristics and ultrasound biomicroscopy (UBM) imaging features of various ASD subtypes in a Chinese tertiary medical center.
View Article and Find Full Text PDFCureus
December 2024
Department of Ophthalmology, Shimane University Faculty of Medicine, Izumo, JPN.
We report three cases demonstrating the efficacy and versatility of the micro-incision scleral tunnel (MIST) technique, a novel method for Ahmed glaucoma valve (AGV) tube insertion. MIST is characterized by its small incision, sutureless approach, anterior-to-posterior tunnel creation, and allograft-free design. The technique involves creating a scleral tunnel using a 1-mm crescent knife (Bleb Knife II), allowing for secure tube placement into the anterior chamber, ciliary sulcus, or vitreous cavity.
View Article and Find Full Text PDFClin Oral Investig
December 2024
Postgraduate in Oral Surgery, University of Florence, Florence, Italy.
Background: Tooth agenesis refers to the absence of one or more of the deciduous or permanent teeth. Tooth agenesis results from a series of disrupted reciprocal ectodermal mesenchymal interactions taking place during the early stages of tooth development.
Methods: A narrative literature review was performed to describe the main genetic syndromes associated with tooth agenesis.
Ophthalmic Genet
December 2024
Department of Medical, Shanghai Fujungenetics Biotechnology Co., Ltd., Shanghai, China.
Mol Genet Genomic Med
November 2024
Department of Neuropsychiatry, Molecules and Function, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
Background: The main features of Axenfeld-Rieger Syndrome (ARS) are ocular, auditory, neurological, and morphological brain abnormalities. Mutations in forkhead box protein C1 (FOXC1) are among the responsible genes causing ARS, but neuropsychiatric features have rarely been reported. The case of an ARS patient (a 77-year-old man) with delusions of jealousy and impairment of working memory, in addition to the main clinical features, glaucoma and leukoencephalopathy, is presented.
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