PMID- 17299707 OWN - NLM STAT- MEDLINE DCOM- 20070504 LR - 20220311 IS - 0022-1899 (Print) IS - 0022-1899 (Linking) VI - 195 IP - 6 DP - 2007 Mar 15 TI - Etiology of severe sensorineural hearing loss in children: independent impact of congenital cytomegalovirus infection and GJB2 mutations. PG - 782-8 AB - BACKGROUND: Sensorineural hearing loss (SNHL) is the most common congenital disease. Longitudinal studies of infants with congenital cytomegalovirus (CMV) infection have demonstrated an association between CMV and SNHL. However, because of the lack of suitable neonatally collected specimens, the proportion of CMV-associated SNHL has not been defined, nor has the relationship between CMV and the major genetic causes of SNHL, such as mutations in the GJB2 gene. METHODS: Sixty-seven children with severe SNHL were analyzed for CMV and human herpesvirus 6 (HHV-6) infections and for GJB2 mutations. DNA specimens were prepared from dried umbilical cords, which are available for everyone born in Japan. Four children with typical symptomatic infection at birth served as positive control subjects. RESULTS: Congenital CMV infection and GJB2 mutations were identified in 15% and 24% of the patients, respectively. HHV-6 was not detected. All children with CMV-associated cases developed SNHL before they were 2 years old. Most children with CMV-associated SNHL had no obvious clinical abnormality at birth, and their viral loads were lower than those of symptomatic children. CONCLUSIONS: Congenital CMV infection is an important cause of severe SNHL, and it has an incidence comparable to that of GJB2-associated SNHL. FAU - Ogawa, Hiroshi AU - Ogawa H AD - National Institute of Infectious Diseases, Tokyo, 162-8640, Japan. FAU - Suzutani, Tatsuo AU - Suzutani T FAU - Baba, Yohko AU - Baba Y FAU - Koyano, Shin AU - Koyano S FAU - Nozawa, Naoki AU - Nozawa N FAU - Ishibashi, Kei AU - Ishibashi K FAU - Fujieda, Kenji AU - Fujieda K FAU - Inoue, Naoki AU - Inoue N FAU - Omori, Koichi AU - Omori K LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20070206 PL - United States TA - J Infect Dis JT - The Journal of infectious diseases JID - 0413675 RN - 0 (Connexins) RN - 0 (DNA Primers) RN - 0 (GJB2 protein, human) RN - 127120-53-0 (Connexin 26) RN - 9007-49-2 (DNA) SB - IM CIN - J Infect Dis. 2007 Mar 15;195(6):767-9. PMID: 17299704 MH - Base Sequence MH - Connexin 26 MH - Connexins/*genetics MH - Cytomegalovirus/*isolation & purification MH - Cytomegalovirus Infections/*epidemiology MH - DNA/blood/genetics/isolation & purification MH - DNA Primers MH - Female MH - Fetal Blood/chemistry MH - Genetic Predisposition to Disease MH - Hearing Loss, Sensorineural/*etiology/genetics MH - Hearing Tests MH - Herpesvirus 6, Human/isolation & purification MH - Humans MH - Infant, Newborn MH - Male MH - *Mutation EDAT- 2007/02/15 09:00 MHDA- 2007/05/05 09:00 CRDT- 2007/02/15 09:00 PHST- 2006/07/02 00:00 [received] PHST- 2006/09/12 00:00 [accepted] PHST- 2007/02/15 09:00 [pubmed] PHST- 2007/05/05 09:00 [medline] PHST- 2007/02/15 09:00 [entrez] AID - JID37064 [pii] AID - 10.1086/511981 [doi] PST - ppublish SO - J Infect Dis. 2007 Mar 15;195(6):782-8. doi: 10.1086/511981. Epub 2007 Feb 6.