Premium
Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes
Author(s) -
CoronaRivera Jorge Román,
CoronaRivera Alfredo,
ZepedaRomero Luz Consuelo,
RiosFlores Izabel Maryalexandra,
RiveraVargas Jehú,
OrozcoVela Mireya,
SantanaBejarano Uriel Francisco,
TorresAnguiano Elizabeth,
PintoCardoso Manuela,
David Dezső,
BobadillaMorales Lucina
Publication year - 2019
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12309
Subject(s) - haploinsufficiency , phenotype , dysgenesis , ring chromosome , deletion syndrome , genetics , chromosome , biology , breakpoint , karyotype , anatomy , medicine , gene
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.