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High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population
المؤلفون المشاركون
Lan, Lan
Guan, Jing
Xiong, Fen
Wang, Hongyang
Bing, Dan
Xie, Linyi
Wang, Qiuju
Wang, Dayong
Li, Jin
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-12، 12ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-07-01
دولة النشر
مصر
عدد الصفحات
12
التخصصات الرئيسية
الملخص EN
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 families of individuals with AN (50 cases) with AIFM1 variations were recruited and identified by Sanger sequencing or next-generation sequencing; the participants included 30 patients from 16 reported families and 20 new cases.
We found that AIFM1-positive cases accounted for 18.6% of late-onset AN cases.
Of the 50 AN patients with AIFM1 variants, 45 were male and 5 were female.
The hotspot variation of this gene was p.Leu344Phe, accounting for 36.1%.
A total of 19 AIFM1 variants were reported in this study, including 7 novel ones.
A follow-up study was performed on 30 previously reported AIFM1-positive subjects, 16 follow-up cases (53.3%) were included in this study, and follow-up periods were recorded from 1 to 23 years with average 9.75±9.89 years.
There was no hearing threshold increase during the short-term follow-up period (1-10 years), but the low-frequency and high-frequency hearing thresholds showed a significant increase with the prolongation of follow-up time.
The speech discrimination score progressed gradually and significantly along with the course of the disease and showed a more serious decline, which was disproportionately worse than the pure tone threshold.
In addition to the X-linked recessive inheritance pattern, the X-linked dominant inheritance pattern is also observed in AIFM1-related AN and affects females.
In conclusion, we confirmed that AIFM1 is the primary related gene among late-onset AN cases, and the most common recurrent variant is p.Leu344Phe.
Except for the X-linked recessive inheritance pattern, the X-linked dominant inheritance pattern is another probability of AIFM1-related AN, with females affected.
Phenotypical features of AIFM1-related AN suggested that auditory dyssynchrony progressively worsened over time.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Wang, Hongyang& Bing, Dan& Li, Jin& Xie, Linyi& Xiong, Fen& Lan, Lan…[et al.]. 2020. High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population. Neural Plasticity،Vol. 2020, no. 2020, pp.1-12.
https://search.emarefa.net/detail/BIM-1202704
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Wang, Hongyang…[et al.]. High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population. Neural Plasticity No. 2020 (2020), pp.1-12.
https://search.emarefa.net/detail/BIM-1202704
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Wang, Hongyang& Bing, Dan& Li, Jin& Xie, Linyi& Xiong, Fen& Lan, Lan…[et al.]. High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population. Neural Plasticity. 2020. Vol. 2020, no. 2020, pp.1-12.
https://search.emarefa.net/detail/BIM-1202704
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1202704
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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