Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other <i>FOXC1</i> deletion phenotypes

Corona‐Rivera, Jorge Román; Corona‐Rivera, Alfredo; Zepeda-Romero, Luz Consuelo; Rios-Flores, Izabel Maryalexandra; Rivera‐Vargas, Jehú; Orozco-Vela, Mireya; Santana‐Bejarano, Uriel Francisco; Torres-Anguiano, Elizabeth; Pinto‐Cardoso, Manuela; Dávid, Dezső; Bobadilla‐Morales, Lucina

doi:10.1111/cga.12309

Cited by 8 publications

(7 citation statements)

References 11 publications

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“…The younger the onset age, the more obvious the clinical phenotype and the more serious the secondary glaucoma. All patients had different levels of posterior embryotoxon and iris hypoplasia which was consistent with previous studies [ 19 ]. Those with severe iris hypoplasia presented obvious pupil abnormalities.…”

Section: Discussionsupporting

confidence: 91%

The clinical and genetic findings in a Chinese family with Axenfeld-Rieger syndrome

Cheng

Zhang²,

Ding³

et al. 2022

Heliyon

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Section: Discussionsupporting

confidence: 91%

The clinical and genetic findings in a Chinese family with Axenfeld-Rieger syndrome

Cheng

Zhang²,

Ding³

et al. 2022

Heliyon

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“…Previous study revealed that FOXC1 was involved in many biological processes, such as eye development [34], cancer [35], cardiovascular system development [36]. Previous studies certified that FOXC1 mutations were associated with the defection of eye anterior segment [37] and cerebral small vessel disease [38]. Human patients with FOXC1 mutations were associated with congenital heart disease [39].…”

Section: Discussionmentioning

confidence: 99%

Bioinformatic identification of hub genes and related transcription factors in low shear stress treated endothelial cells

Yang

2021

BMC Med Genomics

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Background Recent evidences indicated that shear stress is critical in orchestrating gene expression in cardiovascular disease. It is necessary to identify the mechanism of shear stress influencing gene expression in physiology and pathophysiology conditions. This paper aimed to identify candidate hub genes and its transcription factors with bioinformatics. Methods We analyzed microarray expression profile of GSE16706 to identify differentially expressed genes (DEGs) in low shear stress (1 dyne/cm2) treated human umbilical vein endothelial cells (HUVECs) compared with static condition for 24 h. Results 652 DEGs, including 333 up-regulated and 319 down-regulated DEGs, were screen out. Functional enrichment analysis indicated enrichment items mainly included cytokine-cytokine receptor interaction and cell cycle. Five hub genes (CDC20, CCNA2, KIF11, KIF2C and PLK1) and one significant module (score = 17.39) were identified through protein–protein interaction (PPI) analysis. Key transcriptional factor FOXC1 displayed close interaction with all the hub genes via gene-transcriptional factor network. Single-gene GSEA analysis indicated that CDC20 was linked to the G2M_CHECKPOINT pathway and cell cycle pathway. Conclusions By using integrated bioinformatic analysis, a new transcriptional factor and hub-genes network related to HUVECs treated with low shear stress were identified. The new regulation mechanism we discovered may be a promising potential therapeutic target for cardiovascular disease.

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“…This included 13 individuals with a terminal (n = 10) or subterminal (n = 3) 6p deletion who could be included in our parent cohort. We further included 46 individuals from 28 published papers [ 2 , 4 – 8 , 21 – 42 ], 30 with a terminal and 16 with a subterminal deletion, who constitute our literature cohort. We thus included 59 patients in total: 40 with a terminal 6p deletion and 19 with a subterminal 6p25 deletion.…”

Section: Methodsmentioning

confidence: 99%

“…A: Terminal deletion not including FOXC1 (breakpoint distal to 1.61 Mb), B: terminal deletions including FOXC1 and not including TUBB2A (breakpoint between 1.61 and 3.15 Mb), C: terminal deletions including TUBB2A and not including PRPF4B (breakpoint between 3.15 and 4.02 Mb), D: terminal deletions including PRPF4B and not including RREB1 (breakpoint between 4.02 and 7.11 Mb), E: terminal deletions including RREB1 (breakpoint proximal to 7.11 Mb) and S: subterminal 6p deletions (distal breakpoint proximal to 0.35 Mb and including at least part of FOXC1 ). The literature cases were derived from 28 reports [ 2 , 4 – 8 , 21 – 42 ]. All deletions are visualised using the UCSC genome browser (GRCh37/hg19) ( https://genome.ucsc.edu ) [ 13 ].…”

Section: Methodsmentioning

confidence: 99%

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

Rraku

Kerstjens-Frederikse

Swertz

et al. 2023

Orphanet J Rare Dis

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Background Terminal 6p deletions are rare, and information on their clinical consequences is scarce, which impedes optimal management and follow-up by clinicians. The parent-driven Chromosome 6 Project collaborates with families of affected children worldwide to better understand the clinical effects of chromosome 6 aberrations and to support clinical guidance. A microarray report is required for participation, and detailed phenotype information is collected directly from parents through a multilingual web-based questionnaire. Information collected from parents is then combined with case data from literature reports. Here, we present our findings on 13 newly identified patients and 46 literature cases with genotypically well-characterised terminal and subterminal 6p deletions. We provide phenotype descriptions for both the whole group and for subgroups based on deletion size and HI gene content. Results The total group shared a common phenotype characterised by ocular anterior segment dysgenesis, vision problems, brain malformations, congenital defects of the cardiac septa and valves, mild to moderate hearing impairment, eye movement abnormalities, hypotonia, mild developmental delay and dysmorphic features. These characteristics were observed in all subgroups where FOXC1 was included in the deletion, confirming a dominant role for this gene. Additional characteristics were seen in individuals with terminal deletions exceeding 4.02 Mb, namely complex heart defects, corpus callosum abnormalities, kidney abnormalities and orofacial clefting. Some of these additional features may be related to the loss of other genes in the terminal 6p region, such as RREB1 for the cardiac phenotypes and TUBB2A and TUBB2B for the cerebral phenotypes. In the newly identified patients, we observed previously unreported features including gastrointestinal problems, neurological abnormalities, balance problems and sleep disturbances. Conclusions We present an overview of the phenotypic characteristics observed in terminal and subterminal 6p deletions. This reveals a common phenotype that can be highly attributable to haploinsufficiency of FOXC1, with a possible additional effect of other genes in the 6p25 region. We also delineate the developmental abilities of affected individuals and report on previously unrecognised features, showing the added benefit of collecting information directly from parents. Based on our overview, we provide recommendations for clinical surveillance to support clinicians, patients and families.

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Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes

Cited by 8 publications

References 11 publications

The clinical and genetic findings in a Chinese family with Axenfeld-Rieger syndrome

The clinical and genetic findings in a Chinese family with Axenfeld-Rieger syndrome

Bioinformatic identification of hub genes and related transcription factors in low shear stress treated endothelial cells

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

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