scholarly journals Prenatal Diagnosis and Prognosis of Fetal Hyperechogenic Kidney: A Study of 80 Cases

2021 ◽  
Author(s):  
Jin HAN ◽  
YanJun Huang ◽  
Bing Ji ◽  
Zequn liu ◽  
Shuzheng Xu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Microarray Analysis ◽  
Karyotype Analysis ◽  
Single Gene ◽  
Detection Methods ◽  
Genetic Characteristics ◽  
Whole Exome ◽  
Chromosome Karyotype

Abstract Background Prenatal diagnosis of fetal hyperechogenic kidney poses a challenge. The aim of this study was to investigate the genetic reasons and prognosis of fetal hyperechogenic kidney diagnosed on prenatal ultrasonography. Methods We retrospectively reviewed the clinical data of 80 cases of prenatally diagnosed fetal hyperechogenic kidney by the obstetric ultrasound. The genetic characteristics and pregnancy outcomes were analyzed using chromosome karyotype analysis, chromosome microarray analysis, and whole-exome sequencing. Results Of the 80 cases, 48 (60%) were those of isolated fetal hyperechogenic kidney and 32 (40%) were those of non-isolated cases, including 4 cases (5%) of urinary system abnormalities, 7 (8.75%) of central nervous system abnormalities, 5 (6.25%) of cardiac abnormalities, and 16 (20%) of multiple abnormalities. Chromosome karyotype analysis and microarray analysis revealed 17 (21.25%) abnormalities, including isolated fetal hyperechogenic kidney (9, 11.25%) and chromosome microdeletion microduplication (17q12 microdeletion syndrome, Williams-Beuren syndrome, 4p16.3-p16.1 microduplication syndrome) (8, 10%). Moreover, 9 patients had single gene mutations, including those of BBS2, BBS7, HNF1B, ACE, CEP290, COL4A5, and PKHD1. Total 48 pregnancies were terminated (57.3%), and the remaining 32 fetuses survived and grew normally, the neonatal renal function tests were normal. Conclusions Fetal hyperechogenic kidney chromosome abnormalities are common, in particular, there is considerable prevalence of isolated fetal hyperechogenic kidney. Therefore, advances in prenatal diagnosis are crucial, if necessary, with the combined use of whole-exome sequencing and other comprehensive detection methods.

scholarly journals Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease

2017 ◽  
Vol 3 (5) ◽  
pp. e177 ◽  
Author(s):  
Javier Ruiz-Martínez ◽  
Luis J. Azcona ◽  
Alberto Bergareche ◽  
Jose F. Martí-Massó ◽  
Coro Paisán-Ruiz
Keyword(s):  
Parkinson Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genome Wide Association Study ◽  
Single Gene ◽  
Gene Mutations ◽  
Complement Control Protein ◽  
Genome Wide ◽  
Whole Exome ◽  
A Genome

Objective:Despite the enormous advancements made in deciphering the genetic architecture of Parkinson disease (PD), the majority of PD is idiopathic, with single gene mutations explaining only a small proportion of the cases.Methods:In this study, we clinically evaluated 2 unrelated Spanish families diagnosed with PD, in which known PD genes were previously excluded, and performed whole-exome sequencing analyses in affected individuals for disease gene identification.Results:Patients were diagnosed with typical PD without relevant distinctive symptoms. Two different novel mutations were identified in the CSMD1 gene. The CSMD1 gene, which encodes a complement control protein that is known to participate in the complement activation and inflammation in the developing CNS, was previously shown to be associated with the risk of PD in a genome-wide association study.Conclusions:We conclude that the CSMD1 mutations identified in this study might be responsible for the PD phenotype observed in our examined patients. This, along with previous reported studies, may suggest the complement pathway as an important therapeutic target for PD and other neurodegenerative diseases.

scholarly journals Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Lara Pemberton ◽  
Robert Barker ◽  
Anna Cockell ◽  
Vijaya Ramachandran ◽  
Andrea Haworth ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Skeletal Dysplasia ◽  
Genetic Disorder ◽  
Specific Gene ◽  
Ultrasound Images ◽  
Whole Exome ◽  
Lethal Skeletal Dysplasia

Abstract Background Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS. Case presentation In this case prenatal ultrasound images were suggestive of a serious but non-lethal skeletal dysplasia. Due to the uncertain prognosis the parents were offered Whole Exome Sequencing (WES), which identified a specific gene mutation in the FAMIIIa gene. This mutation had previously been detected in two cases and was lethal in both perinatally. This established the diagnosis, a clear prognosis and allowed informed parental choice regarding ongoing pregnancy management. Conclusions This case report supports the use of targeted WES prenatally to confirm the underlying cause and prognosis of sonographically suspected abnormalities.

scholarly journals Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

2019 ◽  
Vol 17 (1) ◽  
Author(s):  
Irit Tirosh ◽  
Shiri Spielman ◽  
Ortal Barel ◽  
Reut Ram ◽  
Tali Stauber ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Single Gene ◽  
Childhood Onset ◽  
Whole Exome

scholarly journals Whole-Exome Sequencing-Based Mutational Profiling of Hepatitis B Virus-Related Early-Stage Hepatocellular Carcinoma

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Hao Zhan ◽  
Jiahao Jiang ◽  
Qiman Sun ◽  
Aiwu Ke ◽  
Jinwu Hu ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Hepatitis B Virus ◽  
Hepatitis B ◽  
Axon Guidance ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Early Stage ◽  
Genetic Characteristics ◽  
Whole Exome ◽  
B Virus

Background. Hepatocellular carcinoma (HCC) ranks as the third leading cause of cancer-related mortality in China with increasing incidence. This study is designed to explore early genetic changes implicated in HCC tumorigenesis and progression by whole-exome sequencing. Methods. We firstly sequenced the whole exomes of 5 paired hepatitis B virus-related early-stage HCC and peripheral blood samples, followed by gene ontological analysis and pathway analysis of the single-nucleotide variants discovered. Then, the mutations of high frequency were further confirmed by Sanger sequencing. Results. We identified a mutational signature of dominant T:A>A:T transversion in early HCC and significantly enriched pathways including ECM-receptor interaction, axon guidance, and focal adhesion and enriched biological processes containing cell adhesion, axon guidance, and regulation of pH. Eight genes, including MUC16, UNC79, USH2A, DNAH17, PTPN13, TENM4, PCLO, and PDE1C, were frequently mutated. Conclusions. This study reveals a mutational profile and a distinct mutation signature of T:A>A:T transversion in early-stage HCC with HBV infection, which will enrich our understanding of genetic characteristics of the early-stage HCC.

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