title: Hearing-loss-associated gene detection in neonatal intensive care unit.
abstract: OBJECTIVE
  To investigate the frequency and mutation spectrum of hearing loss-associated gene mutation in Neonatal Intensive Care Unit (NICU).
  
  
  METHODS
  Neonates (n=2305) admitted to NICU were enrolled in this study. Nine prominent hearing loss-associated genes, GJB2 (35 del G, 176 del 16,235 del C, 299 del AT), GJB3 (538 C > T), SLC26A4 (IVS7-2A > G, 2168 A > G) and mtDNA 12S rRNA(1555 A > G, 1494 C > T), were detected.
  
  
  RESULTS
  There were 73 cases hearing-loss-associated gene mutation among 2305 cases, the mutation frequency was 3.1%, with 40 cases GJB2 (235del C) mutation (54.8%), 6 cases GJB2 (299 del AT) mutation (8.2%), 21 cases SLC26A4 (IVS 7-2 A > G) mutation (28.7%), 4 cases SLC26A4 (2168 A > G) mutation (5.5%), 2 cases of GJB2 (235del C) combined SLC26A4 (IVS 7-2 A > G, 2168 A > G) mutation (2.8%). Among 73 gene mutation cases, preterm neonates presented in 18 cases, accounting for 24.7% (18/73); hyperbilirubinemia in 13 cases, accounting for 17.8% (13/73); Torch Syndrome in 15 cases, with 12 cases CMV, 2 cases rubella, 1 case toxoplasm, respectively, totally accounting for 20.54% (15/73); neonatal pneumonia in 12 cases, accounting for 16.4% (12/73); birth asphyxia in 5 cases, accounting for 6.9% (5/73); sepsis in 5 cases, accounting for 6.9% (5/73); others in 5 cases, accounting for 6.8% (5/73) .
  
  
  CONCLUSIONS
  The frequency of hearing loss-associated gene mutation was higher in NICU.There were hearing loss-associated gene mutations in the NICU, suggesting this mutation may complicate with perinatal high-risk factors.
authors.affiliation: a Department of Neonatology , Guangdong Women and Children Hospital , Guangzhou , China.
authors.forename: S M
authors.initials: SM
authors.lastname: Yang
authors.affiliation: a Department of Neonatology , Guangdong Women and Children Hospital , Guangzhou , China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Liu
authors.affiliation: b Prenatal Diagnosis Centre, Guangdong Women and Children Hospital , Guangzhou , China.
authors.forename: C
authors.initials: C
authors.lastname: Liu
authors.affiliation: b Prenatal Diagnosis Centre, Guangdong Women and Children Hospital , Guangzhou , China.
authors.forename: A H
authors.initials: AH
authors.lastname: Yin
authors.affiliation: c Department of ENT , Guangdong Women and Children Hospital , Guangzhou , China.
authors.forename: Y F
authors.initials: YF
authors.lastname: Wu
authors.affiliation: a Department of Neonatology , Guangdong Women and Children Hospital , Guangzhou , China.
authors.forename: X E
authors.initials: XE
authors.lastname: Zheng
authors.affiliation: a Department of Neonatology , Guangdong Women and Children Hospital , Guangzhou , China.
authors.forename: H M
authors.initials: HM
authors.lastname: Yang
authors.affiliation: a Department of Neonatology , Guangdong Women and Children Hospital , Guangzhou , China.
authors.forename: J
authors.initials: J
authors.lastname: Yang
mesh_terms: D002681:China / Q000453:epidemiology; D003638:Deafness / Q000453:epidemiology / Q000235:genetics*; D005072:Evoked Potentials, Auditory; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007363:Intensive Care Units, Neonatal / Q000706:statistics & numerical data; D008297:Male; D009154:Mutation
keywords: Hearing-loss; NICU; gene