Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31
XZ Liu, Y Yuan, D Yan, EH Ding, XM Ouyang, Y Fei… - Human genetics, 2009 - Springer
Mutations in the genes coding for connexin 26 (Cx26) and connexin 31 (Cx31) cause non-
syndromic deafness. Here, we provide evidence that mutations at these two connexin genes …
syndromic deafness. Here, we provide evidence that mutations at these two connexin genes …
[PDF][PDF] Concurrent hearing and genetic screening of 180,469 neonates with follow-up in Beijing, China
P Dai, LH Huang, GJ Wang, X Gao, CY Qu… - The American Journal of …, 2019 - cell.com
Concurrent hearing and genetic screening of newborns is expected to play important roles
not only in early detection and diagnosis of congenital deafness, which triggers intervention …
not only in early detection and diagnosis of congenital deafness, which triggers intervention …
[HTML][HTML] Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population
X Gao, SS Huang, YY Yuan, JC Xu, P Gu, D Bai… - Neural …, 2017 - hindawi.com
Hereditary hearing loss is characterized by a high degree of genetic heterogeneity.
Mutations in the TMPRSS3 (transmembrane protease, serine 3) gene cause prelingual …
Mutations in the TMPRSS3 (transmembrane protease, serine 3) gene cause prelingual …
Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical …
X Gao, SS Huang, SW Qiu, Y Su, WQ Wang… - Journal of Medical …, 2021 - jmg.bmj.com
Background Germline variants in PTPN11 are the primary cause of Noonan syndrome with
multiple lentigines (NSML) and Noonan syndrome (NS), which share common skin and …
multiple lentigines (NSML) and Noonan syndrome (NS), which share common skin and …
Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss
X Gao, YY Yuan, QF Lin, JC Xu, WQ Wang… - Journal of medical …, 2018 - jmg.bmj.com
Background Hereditary sensorineural hearing loss is a genetically heterogeneous disorder.
Objectives This study was designed to explore the genetic etiology of deafness in a large …
Objectives This study was designed to explore the genetic etiology of deafness in a large …
The relationship between the GJB3 c. 538C> T variant and hearing phenotype in the Chinese population
S Huang, B Huang, G Wang, DY Kang, X Zhang… - International journal of …, 2017 - Elsevier
Background Mutations in GJB3 were originally shown to underlie an autosomal dominant
form of non-syndromic deafness in Chinese patients and the c. 538C> T (p. R180*) variants …
form of non-syndromic deafness in Chinese patients and the c. 538C> T (p. R180*) variants …
[HTML][HTML] Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing
X Gao, Q Zhu, YS Song, GJ Wang, YY Yuan… - Journal of Translational …, 2013 - Springer
Background Inherited genetic defects play an important role in congenital hearing loss,
contributing to about 60% of deafness occurring in infants. Hereditary nonsyndromic hearing …
contributing to about 60% of deafness occurring in infants. Hereditary nonsyndromic hearing …
[HTML][HTML] Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation
C Guo, SS Huang, YY Yuan, Y Zhou, N Wang… - Neural …, 2020 - hindawi.com
Hereditary hearing loss is characterized by remarkable phenotypic heterogeneity. Patients
with the same pathogenic mutations may exhibit various hearing loss phenotypes. In the …
with the same pathogenic mutations may exhibit various hearing loss phenotypes. In the …
[HTML][HTML] Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families
Y Su, X Gao, SS Huang, JN Mao, BQ Huang… - BMC Medical …, 2018 - Springer
Background Many X-linked non-syndromic hearing loss (HL) cases are caused by various
mutations in the POU domain class 3 transcription factor 4 (POU3F4) gene. This study aimed …
mutations in the POU domain class 3 transcription factor 4 (POU3F4) gene. This study aimed …
[HTML][HTML] Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype …
JY Yang, WQ Wang, MY Han, SS Huang… - BMC Medical …, 2022 - Springer
Pathogenic variants in MYO15A are known to cause autosomal recessive nonsyndromic
hearing loss (ARNSHL), DFNB3. We have previously reported on one ARNSHL family …
hearing loss (ARNSHL), DFNB3. We have previously reported on one ARNSHL family …