Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes.
Jorge Román Corona-RiveraAlfredo Corona-RiveraLuz Consuelo Zepeda-RomeroIzabel Maryalexandra Rios-FloresJehú Rivera-VargasMireya Orozco-VelaUriel Francisco Santana-BejaranoElizabeth Torres-AnguianoManuela Pinto-CardosoDezső DavidLucina Bobadilla-MoralesPublished in: Congenital anomalies (2018)
Here, we report a patient with ring chromosome 6 [r(6)], associated with anterior segment dysgenesis (ASD) and other anomalies. The phenotype was due to a 1880 kb microdeletion at 6p25.3 identified by whole-genome array analysis, and was mainly attributable to a FOXC1 haploinsufficiency. Currently 37 patients with r(6) have been reported. We found that facial dysmorphism, ASD, heart anomalies, brain anomalies, and hearing loss are constant features only in severe cases of r(6), mainly related to hemizygosity of FOXC1. Thus, overlaps with other FOXC1 related phenotypes, such as the 6p25 deletion syndrome, Axenfeld-Rieger syndrome type 3, and ASD type 3. Contrarily, those patients whose r(6) does not disrupt FOXC1, have mild or moderate phenotypes and do not exhibit ASD.
Keyphrases
- autism spectrum disorder
- attention deficit hyperactivity disorder
- case report
- intellectual disability
- end stage renal disease
- chronic kidney disease
- newly diagnosed
- copy number
- prognostic factors
- high resolution
- white matter
- early onset
- drug induced
- soft tissue
- working memory
- functional connectivity
- high density
- dna methylation
- data analysis