Patients who aged≥6 years and had hearing loss due to GJB2 or SLC26A4 mutation from the Chinese Deafness Genome Project between January 2020 and December 2023 were included. A total of 43 patients with GJB2 mutation were detected, including 25 males and 18 females, with a mean age of (20.4±11.4) years. There were 20 patients with SLC26A4 mutation, including 9 males and 11 females, with a mean age of (15.7±9.1) years. The mean hearing threshold of GJB2 and SLC26A4 mutation patients was 54.1 (95%: 49.1-59.1) decibel hearing level (dB HL) and 66.1 (95%: 58.6-73.6) dB HL, respectively. The hearing threshold of GJB2 and SLC26A4 mutation patients increased at a rate of 0.21 (95%:-0.15-0.57) dB HL/year and 2.22 (95%: 1.46-2.99) dB HL/year, respectively. The current study indicates that patients with SLC26A4 mutation show a progressive trend of hearing decline with the increase of age.
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http://dx.doi.org/10.3760/cma.j.cn112137-20240329-00720 | DOI Listing |
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
January 2025
Department of Laboratory, Wenzhou People's Hospital, Wenzhou Third Clinical College of Wenzhou Medical University, Wenzhou Maternal and Child Health Hospital, Wenzhou325027, China.
To investigate the feasibility of prime editor (PE) and adenine base editor (ABE) for correction the pathogenic variant of the human deafness gene c.1229C>T. From March 2023 to April 2024, prime editing guide RNA (pegRNA) expression vectors as well as single guide RNA (sgRNA) were designed and constructed for the c.
View Article and Find Full Text PDFBraz J Otorhinolaryngol
January 2025
Shanghai Jiao Tong University, School of Medicine, Hainan Branch of Shanghai Children's Medical Center, Department of Otorhinolaryngology, Sanya, China; Shanghai Jiao Tong University, School of Medicine, Shanghai Children's Medical Center, Department of Otorhinolaryngology, Shanghai, China. Electronic address:
Objective: We aimed to investigate the correlation between prevalent risk factors for high-risk neonates in neonatal intensive care unit and their hearing loss, and to examine the audiological features and genetic profiles associated with different deafness mutations in our tertiary referral center. This research seeks to deepen our understanding of the etiology behind congenital hearing loss.
Methods: We conducted initial hearing screenings, including automated auditory brainstem response, distortion product otoacoustic emission, and acoustic immittance on 443 high-risk neonates within 7 days after birth and 42 days (if necessary) after birth.
Am J Otolaryngol
December 2024
Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China; Beijing Institute of Otolaryngology, Beijing, China; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China. Electronic address:
Purpose: To explore how hearing changes over time and the characteristics associated with progressive hearing loss in children with enlarged vestibular aqueduct (EVA), and develop a prediction model for anticipation of hearing progression probability.
Methods: A retrospective analysis was conducted on 48 children (92 ears) diagnosed with EVA. A total of 314 audiograms were included in the analysis of hearing loss trajectories using linear mixed-effects model.
Biomed Rep
February 2025
Newborn Screening Center, Foshan Women and Children Hospital, Foshan, Guangdong 528000, P.R. China.
Congenital hypothyroidism (CH) is a common neonatal endocrine disorder that is characterized by irreversible neurodevelopmental and growth retardation due to insufficient biosynthesis of thyroid hormones at birth. Determining the causative genetic variants in infants is important for neonatal management. It was aimed to evaluate the variant frequencies and spectrum of CH in the neonatal population of Foshan, China.
View Article and Find Full Text PDFHGG Adv
January 2025
Division of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa; McKusick-Nathans Institute, and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA. Electronic address:
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