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Int J Pediatr Otorhinolaryngol. 2019 Feb;117:82-87. doi: 10.1016/j.ijporl.2018.11.008. Epub 2018 Nov 22.

Genetic screening involving 101 hot spots for neonates not passing newborn hearing screening and those random recruited in Dongguan.

Author information

1
Department of Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital, Dongguan 523112, Guangdong, China.
2
Neonatal Disease Screening Center of Maternal and Child Health Hospital, Dongguan 523112, Guangdong, China.
3
CapitalBio Genomics Co., Ltd., Dongguan 523808, Guangdong, China.
4
Faculty of Medical Laboratory Sciences, Guangdong Medical College, Dongguan 523000, Guangdong, China.
5
Department of ENT, Dongguan Maternal and Children Hospital, Dongguan 523112, Guangdong, China.
6
Neonatal Disease Screening Center of Maternal and Child Health Hospital, Dongguan 523112, Guangdong, China. Electronic address: LXXTL2010@163.com.
7
CapitalBio Genomics Co., Ltd., Dongguan 523808, Guangdong, China; CapitalBio Technology Inc., Beijing 101111, China. Electronic address: hlliu@capitalbiotech.com.

Abstract

In order to investigate essential molecular causes for hearing loss and mutation frequency of deafness-related genes, 1315 newborns who did not pass the Newborn Hearing Screening (NHS) (audio-no-pass) and 1000 random-selected infants were subjected to detection for 101 hotspot mutations in 18 common deafness-related genes. Totally, 23 alleles of 7 deafness genes were detected out. Significant difference (χ2 = 25.320, p = 0.000) existed in causative mutation frequency between audio-no-pass group (81/1315, 6.160%) and random-selected cohort (18/1000, 1.80%). Of the genes detected out, GJB2 gene mutation was with significant difference (χ2 = 75.132, p = 0.000) between audio-no-pass group (417/1315, 31.711%) and random-selected cohort (159/1000, 15.900%); c.109G > A was the most common allele, as well as the only one with significantly different allele frequency (χ2 = 79.327, p = 0.000) between audio-no-pass group (392/1315, 16.84%) and random-selected cohort (140/1000, 7.55%), which suggested c.109G > A mutation was critical for newborns' hearing loss. This study performed detection for such a large scale of deafness-associated genes and for the first time compared mutations between audio-no-pass and random-recruited neonates, which not only provided more reliable DNA diagnosis result for medical practioners and enhanced clinical care for the newborns, but gave more accurate estimation for mutation frequency.

KEYWORDS:

GJB2; GJB3; Genetic screening; MT-CO1; MTRNR1; SLC26A4

PMID:
30579095
DOI:
10.1016/j.ijporl.2018.11.008
[Indexed for MEDLINE]

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