A novel <scp>PLS1</scp> c.981+ <scp>1G</scp> >A variant causes autosomal‐dominant hereditary hearing loss in a family-Reference-Cited by-同舟云学术

A novel PLS1 c.981+ 1G >A variant causes autosomal‐dominant hereditary hearing loss in a family

Published:2023-01-12 Issue:4 Volume:103 Page:413-423
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Xu Liangpu¹,Wang Xinrui¹²³,Li Jia⁴⁵,Chen Lingji¹,Wang Haiwei¹²,Xu Shiyi⁶,Zhang Yanhong⁷,Li Wei⁴^ORCID,Yao Pengcheng⁴^ORCID,Tan Meihua⁴,Zhou Si⁴⁵⁸,Chen Meihuan¹,Pan Yali⁹,Chen Xuemei¹,Chen Xiaolan¹,Liu Yunliang¹⁰,Lin Na¹,Huang Hailong¹,Cao Hua²³

Affiliation:

1. Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect Fuzhou China

2. Medical Research Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics Fujian Medical University Fuzhou China

3. NHC Key Laboratory of Technical Evaluation of Fertility Regulation for Non‐human Primates Fujian Maternity and Child Health Hospital Fuzhou China

4. BGI Genomics BGI‐Shenzhen Shenzhen China

5. Hebei Industrial Technology Research Institute of Genomics in Maternal & Child Health Shijiazhuang BGI Genomics Co., Ltd. Shijiazhuang China

6. The First Clinical Medical College Guangxi Medical University Nanning China

7. Department of Laboratory Medicine Fujian University of Traditional Chinese Medicine Fuzhou China

8. College of Life Sciences University of Chinese Academy of Sciences China

9. Department of Laboratory Medicine Medical Technology and Engineering College of Fujian Medical University Fuzhou China

10. Otolaryngological Department of Fujian Maternity and Child Health Hospital Affiliated Hospital of Fujian Medical University Fuzhou China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14283

Reference40 articles.

1. Hearing Loss in Children

2. Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

3. Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

4. A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss;Wang L;Hum Genet,2018

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