scholarly journals Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next‐generation sequencing

2021 ◽  
Author(s):  
Mahzad Nasirshalal ◽  
Mohammad Panahi ◽  
Nahid Javanshir ◽  
Hamzeh Salmani
Keyword(s):  
Next Generation Sequencing ◽  
Heterozygous Mutation ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Next Generation ◽  
Iranian Family ◽  
Generation Sequencing

scholarly journals Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing

2020 ◽  
Vol 8 (3) ◽  
Author(s):  
Shumin Ren ◽  
Xiaojie Chen ◽  
Xiangdong Kong ◽  
Yibing Chen ◽  
Qinghua Wu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Next Generation ◽  
Novel Variants ◽  
Generation Sequencing

Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing

2017 ◽  
Vol 97 ◽  
pp. 192-196 ◽  
Author(s):  
Farah Talebi ◽  
Farideh Ghanbari Mardasi ◽  
Javad Mohammadi Asl ◽  
Amir Hooshang Bavarsad ◽  
Saeed Tizno
Keyword(s):  
Next Generation Sequencing ◽  
Next Generation ◽  
Fgfr3 Gene ◽  
Iranian Family ◽  
Ladd Syndrome ◽  
Generation Sequencing

scholarly journals A Novel Heterozygous Mutation of the COL4A3 Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family

2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Liang Xia ◽  
Yangjia Cao ◽  
Yang Guo ◽  
Guangyi Ba ◽  
Qiong Luo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Next Generation Sequencing ◽  
Collagen Iv ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Next Generation ◽  
Structural Protein ◽  
Type Iv ◽  
Function Impairment ◽  
Generation Sequencing

Mutations in the COL4A3 gene are frequently reported to be associated with various types of hereditary nephropathy. COL4A3 encodes the α3 chain of type IV collagen, which is the main structural protein in the basement membrane. Mutations in this gene are always related to kidney performance, and deafness and ocular lesion have also been reported. In this study, using next-generation sequencing, we investigated the DNA of a family visiting a clinic for hearing loss. A new missense mutation was found in COL4A3 of 5 patients, c.3227C>T (p.P1076L). Based on these results, we predict that the mutation is pathogenic and leads to abnormal collagen IV. Here, we report for the first time on this autosomal dominant syndrome, characterized by hearing loss and eye abnormalities, but without renal damage, in all carriers. Since the oldest patient in the trial was less than 50 years old, however, we recommend that renal examination be reviewed regularly. Our results reveal expansion in the mutation spectrum of the COL4A3 gene and phenotypic spectrum of collagen IV disease. Our study suggests that next-generation sequencing is an economical and effective method and may help in the accurate diagnosis and treatment of these patients.

scholarly journals New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing

2019 ◽  
Vol 2019 ◽  
pp. 1-12 ◽  
Author(s):  
Wu Li ◽  
Lingyun Mei ◽  
Hongsheng Chen ◽  
Xinzhang Cai ◽  
Yalan Liu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
De Novo ◽  
Waardenburg Syndrome ◽  
Next Generation ◽  
Single Nucleotide Variants ◽  
Number Variation ◽  
First Time ◽  
Generation Sequencing

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.

scholarly journals The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing

2019 ◽  
Vol 10 ◽  
Author(s):  
Dan-Dan Wang ◽  
Fang-Yuan Hu ◽  
Feng-Juan Gao ◽  
Sheng-Hai Zhang ◽  
Ping Xu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Wolfram Syndrome ◽  
Syndrome Type ◽  
Next Generation ◽  
Precise Diagnosis ◽  
Generation Sequencing

scholarly journals Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Saoud Al-Khuzaei ◽  
Karl A. Z. Hudspith ◽  
Suzanne Broadgate ◽  
Morag E. Shanks ◽  
Penny Clouston ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Genetic ◽  
Age At Onset ◽  
Genetic Diagnosis ◽  
Heterozygous Mutation ◽  
Macular Dystrophy ◽  
Sequence Variant ◽  
Next Generation ◽  
Stargardt Disease ◽  
Generation Sequencing

Abstract Background We present 3 members of a family with macular dystrophy, originally diagnosed as Stargardt disease, with a significantly variable age at onset, caused by a heterozygous mutation in CRX. Case presentation A 43-year-old female with bull’s eye maculopathy, whose sister was diagnosed with Stargardt disease previously at another centre, was found to have a single ABCA4 variant. Further examination of the family revealed that the asymptomatic father was also affected, indicating a dominant pattern of inheritance. In addition, the ABCA4 variant was not identified in the sister originally diagnosed with Stargardt disease. Next generation sequencing identified a heterozygous c.121C > T, p.R41W missense mutation in CRX in all 3 affected members. Conclusions We describe a common phenotype, but with variable age at onset, with autosomal dominant inheritance and reduced penetrance in a family found to have a pathogenic sequence variant in CRX. This illustrates the importance of panel based molecular genetic testing accompanied by family studies to establish a definitive diagnosis.

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