Comparison of the Motor Performance and Vestibular Function in Infants with a Congenital Cytomegalovirus Infection or a Connexin 26 Mutation: A Preliminary Study.
cCMV-CI children with normal MRI scans perform equally or even slightly better on speech perception tests compared to their Cx26-CI peers during the first three years, whereas results between cCMV-CI children with and cCMV-CI children without MRI abnormalities and their matched Cx26-CI counterparts tentatively suggest that, over a 5-yr follow-up period, cCMV-CI children with abnormal MRI scans catch up for speech perception, but lag behind for speech production.
We analyzed the GJB2 and SLC26A4 genes for the presence of mutations, screened for the mitochondrial DNA (mtDNA) A1555G mutation, and screened for congenital CMV infection in DNA isolated from dried newborn blood spots.
We examined gap junction protein beta-2 (GJB2) and gap junction protein beta-6 (GJB6) mutations in 149 children with congenital CMV infection and 380 uninfected neonates.
This is the first study to report an association between SNPs in IL1B, TNF, and CCL2, and susceptibility to congenital CMV infection (IL1B and TNF) and SNHL (CCL2).
This is a retrospective study of patients with SNHL of unknown etiology aged 6 months to 17 years old presenting to a tertiary care pediatric center and evaluated for cCMV by DBS testing.
RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant.
This is a retrospective study of patients with SNHL of unknown etiology aged 6 months to 17 years old presenting to a tertiary care pediatric center and evaluated for cCMV by DBS testing.
Congenital cytomegalovirus infection and RNASET2 deficiency may both interfere with brain development and myelination through angiogenesis or RNA metabolism.
We tested DBS from: (A) 39 laboratory reference cases; (B) 156 neonates suspected of having congenital CMV infection; (C) 119 children examined for the retrospective diagnosis of congenital CMV; (D) mock specimens prepared with known amounts of viral DNA.
We tested DBS from: (A) 39 laboratory reference cases; (B) 156 neonates suspected of having congenital CMV infection; (C) 119 children examined for the retrospective diagnosis of congenital CMV; (D) mock specimens prepared with known amounts of viral DNA.