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Dr. Lee, Yungling Leo

Research Fellow
  • 02-27899132 (Lab) (Room No: N343)
  • 02-26523013 (Office)
  • 02-27829142 (Fax)


1. Adaptive Immunity

2. Omics and Precision Medicine

3. Antigen Presenting Cells

4. Vaccine Development

Education and Positions:
  • M.D. National Taiwan University

    Ph.D. National Cheng Kung University

Highlight Detail

Newborn genetic screening for hearing impairment: a population-based longitudinal study

Dr. Lee, Yungling Leo
Genetics in Medicine, Jun 16, 2016


The feasibility of genetic screening for deafness-causing mutations in newborns has been reported in several studies. The aim of this study was to investigate the long-term results in those who screened positive for deafness mutations; these results are crucial to determine the cost-effectiveness to justify population-wide genetic screening.


We performed simultaneous hearing screening and genetic screening targeting four common deafness mutations (p.V37I and c.235delC of GJB2, c.919-2A>G of SLC26A4, and the mitochondrial m.1555A>G) in 5173 newborns at a tertiary hospital between 2009 and 2015. Serial audiometric results up to 6 years old were then analyzed in children with conclusive genotypes.


Newborn genetic screening identified 82 (1.6%) babies with conclusive genotypes, comprising 62 (1.2%) with GJB2 p.V37I/p.V37I, 16 (0.3%) with GJB2 p.V37I/c.235delC, and 4 (0.1%) with m.1555A>G. Of these, 46 (56.1%) passed hearing screening at birth. Long-term follow-up demonstrated progressive hearing loss in children with the GJB2 p.V37I/p.V37I and p.V37I/c.235delC genotypes; this hearing loss deteriorated by approximately 1 decibel hearing level (dBHL) per year.


We delineated the longitudinal auditory features of the highly prevalent GJB2 p.V37I mutation on a general population basis and confirmed the utility of newborn genetic screening in identifying infants with late-onset or progressive hearing impairment undetectable by newborn hearing screening.