scholarly journals Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct

2019 ◽  
Vol 12 (1) ◽  
pp. 50-57 ◽  
Author(s):  
Yongbo Yu ◽  
Yang Yang ◽  
Jie Lu ◽  
Yaqiong Jin ◽  
Yeran Yang ◽  
...  
Keyword(s):  
Compound Heterozygous ◽  
Enlarged Vestibular Aqueduct ◽  
Chinese Families ◽  
Vestibular Aqueduct ◽  
I Gene

scholarly journals Novel compound heterozygous mutations in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct

2018 ◽  
Vol 12 (5) ◽  
pp. 502-506 ◽  
Author(s):  
Xuelei Zhao ◽  
Xiaohua Cheng ◽  
Lihui Huang ◽  
Xianlei Wang ◽  
Cheng Wen ◽  
...  
Keyword(s):  
Chinese Family ◽  
Compound Heterozygous ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct ◽  
Compound Heterozygous Mutations ◽  
I Gene

Auditory and imaging markers of atypical enlarged vestibular aqueduct

2021 ◽  
Author(s):  
Linsheng Wang ◽  
Yuanlin Qin ◽  
Laimin Zhu ◽  
Xiaoyu Li ◽  
Yueqin Chen ◽  
...  
Keyword(s):  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct ◽  
Imaging Markers

Novel Pathogenic Mutations of FERMT1 in two Chinese Kindler Syndrome Families

2021 ◽  
Author(s):  
Min Li ◽  
Weisheng Li ◽  
Dan Zhu ◽  
Likui Lu ◽  
Jingliu Liu ◽  
...  
Keyword(s):  
Autosomal Recessive Disorder ◽  
Compound Heterozygous ◽  
Loss Of Function ◽  
Nonsense Mutations ◽  
Chinese Families ◽  
Kindler Syndrome ◽  
Pathogenic Mutations ◽  
Whole Exome ◽  
Palmoplantar Hyperkeratosis ◽  
Cigarette Paper

Abstract Background: Kindler syndrome (KNDLRS) is a very rare autosomal recessive disorder characterized by bullous poikiloderma with photosensitivity. Loss-of-function mutations in FERMT1, which located on chromosome 20p12.3, were responsible for KNDLRS. Numerous mutations in FERMT1 have been reported to be associated with KNDLRS. Results: The present study reported two Chinese KNDLRS families, and affected individuals from both families presented with poikiloderma, palmoplantar hyperkeratosis, and diffuse cigarette paper like atrophy on hands. Skin biopsy of the proband from family 2 showed atrophy of epidermis, hyperkeratosis, dilated blood vessels in upper dermis, and microbubbles at the dermis and epidermis junction. Medical Whole Exome Sequencing V4 combined with Sanger sequencing revealed mutations in FERMT1 with affected individuals. Compound heterozygous nonsense mutations (c.193C>T, c.277C>T) were found with family 1, and a homozygous frameshift mutation (c.220delC) was observed in family 2. According to the clinical features and genetic analysis, KNDLRS was diagnosed in two Chinese families. Conclusions: This study revealed two novel pathogenic mutations in FERMT1 that caused KNDLRS and briefly summarized all pathogenic mutations in FERMT1 that have been documented via the PubMed.

Enlarged vestibular aqueduct: Intraoperative electrocochleography findings during cochlear implantation

2020 ◽  
Vol 134 ◽  
pp. 110065
Author(s):  
William J. Riggs ◽  
Meghan M. Hiss ◽  
Varun V. Varadarajan ◽  
Jameson K. Mattingly ◽  
Oliver F. Adunka
Keyword(s):  
Cochlear Implantation ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct

Receptive language acquisition in a pediatric population with Pendred syndrome and non-syndromic enlarged vestibular aqueduct

2019 ◽  
Vol 140 (1) ◽  
pp. 46-50 ◽  
Author(s):  
Kristianna Mey ◽  
Lone Percy-Smith ◽  
Maria Hallstrøm ◽  
Matilde Sandvej ◽  
Per Cayé-Thomasen
Keyword(s):  
Language Acquisition ◽  
Pediatric Population ◽  
Receptive Language ◽  
Pendred Syndrome ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct
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