Linyi Xie
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View article: From Profiles to Structure in Cochlear Nerve: A Clinical Study of Auditory Neuropathy
From Profiles to Structure in Cochlear Nerve: A Clinical Study of Auditory Neuropathy Open
Objectives To investigate the clinical and audiological features in auditory neuropathy (AN) patients with different image performance of cochlear nerve (CN) on MRI. Methods AN patients were selected from the Multicenter Study on Clinical …
View article: Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants
Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants Open
A novel variant of EYA4 was identified in a Chinese family with postlingual hearing loss, contributing to the expanding spectrum of EYA4 variants. The audiological features of EYA4 variants are highly heterogeneous and often challenging to…
View article: Clinical and genetic architecture of a large cohort with auditory neuropathy
Clinical and genetic architecture of a large cohort with auditory neuropathy Open
Auditory neuropathy (AN) is a unique type of language developmental disorder, with no precise rate of genetic contribution that has been deciphered in a large cohort. In a retrospective cohort of 311 patients with AN, pathogenic and likely…
View article: [Analysis of audiological features in infants with unilateral hearing loss].
[Analysis of audiological features in infants with unilateral hearing loss]. Open
Objective:To investigate the audiological characteristics and possible causes of unilateral hearing loss in infants and young children. Methods:105 infants from Beijing Maternal and Child Health Care Institution who failed the newborn hear…
View article: [Application of behavioral audiometry in subjective hearing assessment of children].
[Application of behavioral audiometry in subjective hearing assessment of children]. Open
Objective:To explore the value and influencing factors of behavioral audiometry in subjective hearing assessment of children. Methods:The results of behavioral audiometry（visual reinforcement audiometry or play audiometry） of 1944 children…
View article: [The follow-up study on patients of children with auditory neuropathy].
[The follow-up study on patients of children with auditory neuropathy]. Open
Objective:To analyse the audiological characteristics of patients of children with auditory neuropathy（AN） for gaining a better understanding of the audiological characteristics prognosis of patients with AN. Methods:58 patients（108 ears） …
View article: The audiological characteristics of infant auditory neuropathy patients without otoacoustic emission
The audiological characteristics of infant auditory neuropathy patients without otoacoustic emission Open
Objective To explore the audiological characteristics of infant auditory neuropathy (AN) patients with cochlear microphonic (CM) recorded but absent otoacoustic emission (OAE), clinically reducing the rate of missed diagnosis of AN. Method…
View article: The audiological characteristics of infant auditory neuropathy patients without otoacoustic emission: A retrospective clinical study
The audiological characteristics of infant auditory neuropathy patients without otoacoustic emission: A retrospective clinical study Open
Objective: To explore the audiological characteristics of infant auditory neuropathy (AN) patients with cochlear microphonic (CM) recorded but no otoacoustic emission (OAE) response and clinically reduce the rate of missed diagnosis of AN.…
View article: Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype–Phenotype Study and CI Management
Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype–Phenotype Study and CI Management Open
Objective: The objective of this study is to analyze the genotype–phenotype correlation of patients with auditory neuropathy (AN), which is a clinical condition featuring normal cochlear responses and abnormal neural responses, and ATP1A3 …
View article: Clinical characteristics of patients with unilateral auditory neuropathy
Clinical characteristics of patients with unilateral auditory neuropathy Open
Our study demonstrates comprehensive audiological features of patients with UAN to improve the clinical understanding and diagnosis. Some patients with UAN could show ipsilateral CND and MRI is essential to evaluate if the nerve is deficie…
View article: Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation
Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation Open
Objective To report the phenotypic heterogeneity of GJB2 c.235delC homozygotes associated with post-lingual and/or milder hearing loss, and explore the possible mechanism of these unconditional phenotypes. Methods Mutation screening of GJB…
View article: [Identification of a novel mutation of CEACAM16 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss].
[Identification of a novel mutation of CEACAM16 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss]. Open
Objective:To explore the genetic cause of a Chinese autosomal dominant nonsyndromic hearing loss family and investigate the clinical features and molecular genetic characteristics of this family. Method:Detailed medical history and systema…
View article: High Frequency of <i>AIFM1</i> Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population
High Frequency of <i>AIFM1</i> Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population Open
To decipher the genotype-phenotype correlation of auditory neuropathy (AN) caused by AIFM1 variations, as well as the phenotype progression of these patients, exploring the potential molecular pathogenic mechanism of AN. A total of 36 fami…
View article: Serum Bilirubin Level as a Potential Marker for the Hearing Outcome in Severe-Profound Bilateral Sudden Deafness
Serum Bilirubin Level as a Potential Marker for the Hearing Outcome in Severe-Profound Bilateral Sudden Deafness Open
Objective: To investigate the association of serum bilirubin level with hearing outcomes in bilateral sudden sensorineural hearing loss (BSSHL) patients. Participants: One hundred thirteen in-patient BSSHL patients were consecutively enrol…
View article: Further evidence for “gain-of-function” mechanism of DFNA5 related hearing loss
Further evidence for “gain-of-function” mechanism of DFNA5 related hearing loss Open
To report two DFNA5 pathogenic splice-site variations and a novel benign frameshift variation to further support the gain-of-function mechanism of DFNA5 related hearing impairment, targeted genes capture and next generation sequencing were…
View article: Identification of four <i><scp>TMC</scp>1</i> variations in different Chinese families with hereditary hearing loss
Identification of four <i><span>TMC</span>1</i> variations in different Chinese families with hereditary hearing loss Open
Background Variants in TMC 1 (transmembrane channel‐like 1) can cause both autosomal dominant and recessive hearing loss in human population. Mice with Tmc1 variants have been shown to be ideal animal models for gene therapy. In this artic…
View article: Novel recessive <i>PDZD7</i> biallelic mutations in two Chinese families with non‐syndromic hearing loss
Novel recessive <i>PDZD7</i> biallelic mutations in two Chinese families with non‐syndromic hearing loss Open
Autosomal recessive non‐syndromic hearing loss (ARNSHL) is a highly heterogeneous genetic condition. PDZD7 has emerged as a new genetic etiology of ARNSHL. Biallelic mutations in the PDZD7 gene have been reported in two German families, fo…
View article: Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome Open
This study highlights the phenotypic heterogeneity of HDR and points to a possible genetic anticipation in patients with HDR, which needs to be further investigated.
View article: A novel dominant GJB2 (DFNA3) mutation in a Chinese family
A novel dominant GJB2 (DFNA3) mutation in a Chinese family Open
To decipher the phenotype and genotype of a Chinese family with autosomal dominant non-syndromic hearing loss (ADNSHL) and a novel dominant missense mutation in the GJB2 gene (DFNA3), mutation screening of GJB2 was performed on the proposi…
View article: A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family
A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family Open
A nonsense mutation is identified in a family displaying the pedigree consistent with X-linked recessive pattern in POU3F4 gene. In addition, we may provide molecular diagnosis and genetic counseling for this family.