Auditory Neuropathy Spectrum Disorder (ANSD)—Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families
المؤلفون المشاركون
Li, Qingli
Zuo, Bin
Tang, Wenxue
Zhai, Rongqun
Feng, Haifeng
Liu, Danhua
Tian, Yongan
Liu, Huanfei
Li, Ruijun
Xu, Hongen
Chen, Bei
Lu, Wei
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-6، 6ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-12-22
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص EN
Objective.
To analyze the phenotypic features and pathogenic variants of three unrelated families presenting with nonsyndromic auditory neuropathy spectrum disorder (ANSD).
Methods.
Three recruited families that were affected by congenital deafness were clinically evaluated, including a detailed family history and audiological and radiological examination.
The peripheral blood of all patients and their parents was collected for DNA extraction, and then, the exonic and flanking regions were enriched and sequenced using targeted capture and high-throughput sequencing technology.
Bioinformatics analyses and the Sanger sequencing were carried out to screen and validate candidate pathogenic variants.
The pathogenicity of candidate variants was evaluated by an approach that was based on the standards and guidelines for interpreting genetic variants as proposed by the American College of Medical Genetics and Genomics (ACMG).
Results.
Four patients in three families were diagnosed as nonsyndromic ANSD, and all exhibited OTOF gene mutations.
Among them, two individuals in family 1 (i.e., fam 1-II-2 and fam 1-II-3) carried homozygous variants c.[2688del];[2688del] (NM_194248.3).
Two individuals from family 2 (fam 2-II-1) and family 3 (fam 3-II-4) carried compound heterozygous variants c.[4960G>A];[1469C>G] and c.[2675A>G];[2977_2978del], respectively.
Conclusions.
Three unrelated pedigrees with ANSD were caused by pathogenic variants in the OTOF gene.
Five mutations were found and included c.2688del, c.2675A>G, c.2977_2978del, c.4960G>A, and c.1469C>G, of which the first two are novel and expanded mutational spectrum of the OTOF gene, thus having important implications for genetic counseling of the family.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Zhai, Rongqun& Feng, Haifeng& Li, Qingli& Lu, Wei& Liu, Danhua& Tian, Yongan…[et al.]. 2020. Auditory Neuropathy Spectrum Disorder (ANSD)—Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families. BioMed Research International،Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1137737
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Zhai, Rongqun…[et al.]. Auditory Neuropathy Spectrum Disorder (ANSD)—Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families. BioMed Research International No. 2020 (2020), pp.1-6.
https://search.emarefa.net/detail/BIM-1137737
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Zhai, Rongqun& Feng, Haifeng& Li, Qingli& Lu, Wei& Liu, Danhua& Tian, Yongan…[et al.]. Auditory Neuropathy Spectrum Disorder (ANSD)—Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1137737
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1137737
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر