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

Next‐generation sequencing‐aided precise diagnosis of Stickler syndrome type I

2019 ◽  
Vol 98 (4) ◽  
Author(s):  
Dan‐Dan Wang ◽  
Feng‐Juan Gao ◽  
Fang‐Yuan Hu ◽  
Jian‐Kang Li ◽  
Sheng‐Hai Zhang ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Type I ◽  
Syndrome Type ◽  
Stickler Syndrome ◽  
Next Generation ◽  
Precise Diagnosis ◽  
Generation Sequencing

scholarly journals Next-Generation Sequencing Reveals ThatHLA-DRB3,-DRB4, and-DRB5May Be Associated With Islet Autoantibodies and Risk for Childhood Type 1 Diabetes

Diabetes ◽  
2016 ◽  
Vol 65 (3) ◽  
pp. 710-718 ◽  
Author(s):  
Lue Ping Zhao ◽  
Shehab Alshiekh ◽  
Michael Zhao ◽  
Annelie Carlsson ◽  
Helena Elding Larsson ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Next Generation Sequencing ◽  
Islet Autoantibodies ◽  
Next Generation ◽  
Childhood Type 1 Diabetes ◽  
Childhood Type ◽  
Generation Sequencing

Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing

2016 ◽  
Vol 35 (4) ◽  
pp. 282-285 ◽  
Author(s):  
Maryam Rafati ◽  
Faezeh Mohamadhashem ◽  
Azadeh Hoseini ◽  
Somayeh Darzi Ramandi ◽  
Saeed Reza Ghaffari
Keyword(s):  
Prenatal Diagnosis ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Tyrosinemia Type 1 ◽  
Generation Sequencing

Molecular and clinical profile of VWD in a large cohort of Chinese population: application of next generation sequencing and CNVplex® technique

2017 ◽  
Vol 117 (08) ◽  
pp. 1534-1548 ◽  
Author(s):  
Qian Liang ◽  
Huanhuan Qin ◽  
Qiulan Ding ◽  
Xiaoling Xie ◽  
Runhui Wu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Autosomal Recessive Inheritance ◽  
Von Willebrand Disease ◽  
Bleeding Tendency ◽  
Missense Mutations ◽  
Next Generation ◽  
Phenotypic Data ◽  
Specific Distribution ◽  
Generation Sequencing

SummaryVon Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable bleeding tendency, heterogeneous laboratory phenotype and race specific distribution of mutations. The present study aimed to determine the correlation of genotype and phenotype in 200 Chinese individuals from 90 unrelated families with VWD. Next generation sequencing (NGS) of the whole coding VWF, copy number analysis of VWF by CNVplex® technique as well as a comprehensive phenotypic assessment were carried out in all index patients (IPs). We identified putative mutations in all IPs except five mild type 1 (85/90, 94.4%). In total, 98 different mutations were detected, 62 (63.3% of which were reported for the first time (23 missense mutations, 1 regulatory mutation, 12 splice site mutations and 26 null mutations). Mutations p.Ser1506Leu and p.Arg1374His/Cys/ Ser were the most frequent mutations in 2A (33% of cases) and 2M VWD (67% of cases), respectively. In addition, mutation p.Arg816Trp was detected repeatedly in type 2N patients, while mutation p.Arg854Gln, extremely common in Caucasians, was not found in our cohort. Thirty-three patients had two or more putative mutations. Unlike most cases of type 1 and type 2 VWD, which were transmitted dominantly, we presented seven severe type 1, two type 2A and one type 2M with autosomal recessive inheritance. Here the phenotypic data of patients with novel mutations will certainly contribute to the better understanding of the molecular genetics of VWF-related phenotypes.Supplementary Material to this article is available online at www.thrombosis-online.com.

scholarly journals Novel SCNN1A Gene Splicing-site Mutation Causing Autosomal Recessive Pseudohypoaldosteronism type 1 (PHA1) in two Italian Patients Belonging to the Same Small Town

2021 ◽  
Author(s):  
Gregorio Serra ◽  
Vincenzo Antona ◽  
Maria Michela D’Alessandro ◽  
Maria Cristina Maggio ◽  
Vincenzo Verde ◽  
...  
Keyword(s):  
Metabolic Acidosis ◽  
Next Generation Sequencing ◽  
Family History ◽  
Gene Mutation ◽  
Small Town ◽  
Next Generation ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Pseudohypoaldosteronism Type

Abstract IntroductionPseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Its clinical spectrum includes neonatal salt loss syndrome with hyponatremia and hypochloraemia, hyperkalemia, metabolic acidosis and increased plasmatic levels of aldosterone. Two genetically distinct forms of disease, renal and systemic, have been described, showing a wide clinical expressivity. Mutations in the genes encoding for the subunits of the epithelial sodium channels (ENaC) are responsible for generalized PHA1. Patients’ presentationWe hereby report on two Italian patients with generalized PHA1, coming from the same small town in the center of Sicily. The first patient is a male child, born from the first pregnancy of healthy consanguineous Sicilian parents. A novel SCNN1A (sodium channel epithelial subunit alpha) gene mutation, inherited from both heterozygous parents, was identified by next generation sequencing (NGS) in the homozygous child (and later, also in the heterozygous maternal aunt). A more detailed family history disclosed a possible related twenty-year-old girl, belonging to the same Sicilian small town, with referred neonatal salt loss syndrome associated to hyperkalemia, and subsequent normal growth and neurodevelopment. This second patient had a PHA1 clinical diagnosis when she was about one year old. The genetic investigation was, then, extended to her and to her family, revealing the same mutation in the homozygous girl and in the heterozygous parents.ConclusionsThe neonatologist should consider PHA1 diagnosis in newborns showing hyponatremia, hyperkalemia and metabolic acidosis, after the exclusion of a salting-loss form of adrenogenital syndrome. The increased plasmatic levels of aldosterone and aldosterone/renin ratio, associated to a poor response to steroid administration, confirmed the diagnosis in the first present patient. An accurate family history may be decisive to identify the clinical picture. A multidisciplinary approach and close follow-up evaluations are requested, in view of optimal management, adequate growth and development of patients. Next generation sequencing (NGS) techniques allowed the identification of the SCNN1A gene mutation either in both patients or in other heterozygous family members, enabling also primary prevention of disease. Our report may broaden the knowledge of the genetic and molecular bases of PHA1, improving its clinical characterization and providing useful indications for the treatment of patients. Clinical approach must be personalized, also in relation to long-term survival and potential multiorgan complications.

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.

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