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

Authors
  • Corona-Rivera, Jorge Román1, 2
  • Corona-Rivera, Alfredo1, 2
  • Zepeda-Romero, Luz Consuelo3
  • Rios-Flores, Izabel Maryalexandra1
  • Rivera-Vargas, Jehú1, 2
  • Orozco-Vela, Mireya2
  • Santana-Bejarano, Uriel Francisco2
  • Torres-Anguiano, Elizabeth2
  • Pinto-Cardoso, Manuela4
  • David, Dezső4
  • Bobadilla-Morales, Lucina1, 2
  • 1 Center for Registry and Research on Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Division of Pediatrics, "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Guadalajara, Mexico. , (Mali)
  • 2 'Dr. Enrique Corona-Rivera' Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Center, University of Guadalajara, Guadalajara, Mexico. , (Mexico)
  • 3 Service of Ophthalmology, Division of Pediatrics, 'Fray Antonio Alcalde' Civil Hospital of Guadalajara, Guadalajara, Mexico. , (Mexico)
  • 4 Department of Human Genetics, National Health Institute Doutor Ricardo Jorge, Lisbon, Portugal. , (Portugal)
Type
Published Article
Journal
Congenital anomalies
Publication Date
Sep 01, 2019
Volume
59
Issue
5
Pages
174–178
Identifiers
DOI: 10.1111/cga.12309
PMID: 30225942
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

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. © 2018 Japanese Teratology Society.

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