New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing
المؤلفون المشاركون
Yan, Denise
Liu, Xue Zhong
Li, Wu
Mei, Lingyun
Chen, Hongsheng
Cai, Xinzhang
Liu, Yalan
Men, Meichao
Ling, Jie
Feng, Yong
المصدر
العدد
المجلد 2019، العدد 2019 (31 ديسمبر/كانون الأول 2019)، ص ص. 1-12، 12ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2019-02-27
دولة النشر
مصر
عدد الصفحات
12
التخصصات الرئيسية
الملخص EN
Background.
Waardenburg syndrome (WS) is one of the most common forms of syndromic deafness with heterogeneity of loci and alleles and variable expressivity of clinical features.
Methods.
The technology of single-nucleotide variants (SNV) and copy number variation (CNV) detection was developed to investigate the genotype spectrum of WS in a Chinese population.
Results.
Ninety WS patients and 24 additional family members were recruited for the study.
Fourteen mutations had not been previously reported, including c.808C>G, c.117C>A, c.152T>G, c.803G>T, c.793-3T >G, and c.801delT on PAX3; c.642_650delAAG on MITF; c.122G>T and c.127C>T on SOX10; c.230C>G and c.365C>T on SNAI2; and c.481A>G, c.1018C>G, and c.1015C>T on EDNRB.
Three CNVs were de novo and first reported in our study.
Five EDNRB variants were associated with WS type 1 in the heterozygous state for the first time, with a detection rate of 22.2%.
Freckles occur only in WS type 2.
Yellow hair, amblyopia, congenital ptosis, narrow palpebral fissures, and pigmentation spots are rare and unique symptoms in WS patients from China.
Conclusions.
EDNRB should be considered as another prevalent pathogenic gene in WS type 1.
Our study expanded the genotype and phenotype spectrum of WS, and diagnostic next-generation sequencing is promising for WS.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Li, Wu& Mei, Lingyun& Chen, Hongsheng& Cai, Xinzhang& Liu, Yalan& Men, Meichao…[et al.]. 2019. New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing. Neural Plasticity،Vol. 2019, no. 2019, pp.1-12.
https://search.emarefa.net/detail/BIM-1201584
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Li, Wu…[et al.]. New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing. Neural Plasticity No. 2019 (2019), pp.1-12.
https://search.emarefa.net/detail/BIM-1201584
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Li, Wu& Mei, Lingyun& Chen, Hongsheng& Cai, Xinzhang& Liu, Yalan& Men, Meichao…[et al.]. New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing. Neural Plasticity. 2019. Vol. 2019, no. 2019, pp.1-12.
https://search.emarefa.net/detail/BIM-1201584
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1201584
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