GJB2 and GJB6 Mutations in Children with Congenital Cytomegalovirus Infection

Ross, Shannon A.; Novák, Zdeněk; Kumbla, Rekha Anjali; Zhang, Kui; Fowler, Karen B.; Boppana, Suresh B.

doi:10.1203/pdr.0b013e3180536609

Cited by 32 publications

(24 citation statements)

References 31 publications

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“…The pathogenesis of SNHL in children with congenital CMV infection remains not well understood. Ross et al initially found that the mutation rate of GJB2 in children with CMV infection and hearing loss was higher than those in children with CMV infection and normal hearing (20).…”

Section: Discussionmentioning

confidence: 99%

“…Ogawa et al (19) reported that congenital CMV infection and GJB2 mutations were identified in 15 and 24%, respectively, of 67 children with severe SNHL. Ross et al (20) found that the overall frequency of GJB2 mutations in children with CMV infection and hearing loss was higher than that in children with CMV infection and normal hearing (21 vs. 3%).…”

mentioning

confidence: 99%

“…However, recent studies could not determine whether congenital CMV infection induces GJB2 mutations and increases the risk of hearing loss (19,20) because the GJB2 sequences in corresponding parents were not detected, and the possibility that the mutation spectrum of GJB2 in neonates was inherited from their parents could not be excluded. On the basis of existing data, the current study further examined the mutation frequency of GJB2 in neonates with and without congenital CMV infection, as well as in their corresponding parents, to determine whether congenital CMV infection leads to hearing loss through inducing mutation of GJB2 gene.…”

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confidence: 99%

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Does congenital cytomegalovirus infection lead to hearing loss by inducing mutation of the GJB2 gene?

Li¹,

Tan²,

Zhou³

et al. 2013

Pediatr Res

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Background: Congenital cytomegalovirus (CMV) infection and mutation of the gap junction β-2 (GJB2) gene are important causes of sensorineural hearing loss (SNHL). This study aims to determine if congenital CMV infection leads to deafness by inducing GJB2 mutation. Methods: GJB2 gene sequencing and auditory brainstem response testing were performed in 159 neonates (63 with and 96 without CMV infection) from August 2008 to August 2011. For neonates with GJB2 mutation, their parents were further screened for GJB2 sequence. results: The incidence of SNHL was 12.7% in CMV-infected but 0% in uninfected children aged 1-1.5 y (P = 0.000). Similar mutation rates of the GJB2 gene were observed in neonates with or without CMV infection (34.9 vs. 32.3%, respectively, P = 0.734). No significant difference in the mutation rate of GJB2 was found among neonates with CMV infection and SNHL, those with CMV infection and normal hearing, and uninfected newborns with normal hearing (P = 0.438). Mutations 79G>A, 109G>A, 341A>G, and 608T>C were found in neonates with and without CMV infection. All of the above mutations were also found in both or one of the corresponding parents. conclusion: Congenital CMV infections may cause deafness in neonates, but this might be independent of GJB2 gene mutation.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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confidence: 99%

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Does congenital cytomegalovirus infection lead to hearing loss by inducing mutation of the GJB2 gene?

Li¹,

Tan²,

Zhou³

et al. 2013

Pediatr Res

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“…38 Thus, the presence of a single recessive allele in an individual with hearing loss may not simply represent a carrier state and should be interpreted cautiously when providing genetic counseling. Other factors, such as infection, may be co-occurring with mutations in Cx26/30 39 warranting further investigation.…”

Section: Discussionmentioning

confidence: 99%

Infant hearing loss and connexin testing in a diverse population

Schimmenti

Martinez

Telatar³

et al. 2008

Genetics in Medicine

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Purpose: Previous studies of connexin-related hearing loss have typically reported on mixed age groups or adults.To further address epidemiology and natural history of connexin-related hearing loss, we conducted a longitudinal study in an ethnically diverse cohort of infants and toddlers under 3 years of age. Our study compares infants with and without connexin-related hearing loss to examine differences in the prevalence of connexin and non-connexinrelated hearing loss by ethnic origin, detection by newborn hearing screening, phenotype, neonatal risk factors, and family history. This is the first study to differentiate infants with and without connexin-related hearing loss. Methods:We enrolled 95 infants with hearing loss from whom both exons of Cx26 were sequenced and the Cx30 deletion was assayed. Demographic, family history, newborn hearing screening data, perinatal, and audiologic records were analyzed. Results: Genetic testing identified biallelic Cx26/30 hearing loss-associated variants in 24.7% of infants with a significantly lower prevalence in Hispanic infants (9.1%). Eighty-two infants underwent newborn hearing screening; 12 infants passed, 3 had connexin-related hearing loss. No differences in newborn hearing screening pass rate, neonatal complications, or hearing loss severity were detected between infants with and without connexin-related hearing loss. Family history correlates with connexin-related hearing loss.Conclusions: Connexin-related hearing loss occurs in one quarter of infants in an ethnically diverse hearing loss population but with a lower prevalence in Hispanic infants. Not all infants with connexin-related hearing loss fail newborn hearing screening. Family history correlates significantly with connexin-related hearing loss. Genetic testing should not be deferred because of newborn complications. These results will have an impact on genetic testing for infant hearing loss. Genet Med 2008:10(7):517-524.

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“…The present prospective study evaluated the effect of cochlear implantation in deaf children with asymptomatic CMV infection. Congenital CMV infection was confirmed by CMV DNA testing of neonatal urine; however, a direct causal relationship between the CMV infection and the hearing loss was not proven because genetic testing to identify mutations, such as in the GJB-2 gene, was not performed [17]. However, the clinical course of the patients’ audiologic findings strongly suggests a positive correlation between CMV infection and deafness in these cases.…”

Section: Discussionmentioning

confidence: 99%

Cochlear Implant in Children with Asymptomatic Congenital Cytomegalovirus Infection

et al. 2008

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Objective: To evaluate the development of speech perception and auditory skills after cochlear implantation in deaf children with asymptomatic congenital cytomegalovirus (CMV) infection diagnosed based on the presence of CMV DNA in the neonatal urine. Study Design: A prospective study of congenital CMV infection was done between 1996 and 2003. Of 18 children diagnosed with congenital CMV infection, 2 deaf children with asymptomatic CMV infections received cochlear implantation. Results: The 2 deaf children who received cochlear implantation had delayed-onset, progressive sensorineural hearing loss on follow-up audiometric examinations administered at 29 and 39 months of age. After cochlear implantation, their Infant-Toddler Meaningful Auditory Integration Scale scores increased consistently during 36 months of follow-up; these results were similar to those of 5 congenitally deaf children without CMV infection who had cochlear implantation. Conclusions: Cochlear implantation was effective for improving the development of speech perception and auditory skills in deaf children with asymptomatic congenital CMV infection. There was no significant difference in the development of useful auditory integration between our general pediatric cochlear implant population without CMV infection and those with asymptomatic CMV infection.

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GJB2 and GJB6 Mutations in Children with Congenital Cytomegalovirus Infection

Cited by 32 publications

References 31 publications

Does congenital cytomegalovirus infection lead to hearing loss by inducing mutation of the GJB2 gene?

Does congenital cytomegalovirus infection lead to hearing loss by inducing mutation of the GJB2 gene?

Infant hearing loss and connexin testing in a diverse population

Cochlear Implant in Children with Asymptomatic Congenital Cytomegalovirus Infection

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