scholarly journals Whole-Exome Sequencing for Identifying Genetic Causes of Intellectual Developmental Disorders

2021 ◽  
Vol Volume 14 ◽  
pp. 1275-1282
Author(s):  
Yu-Xiong Guo ◽  
Hong-Xia Ma ◽  
Yu-Xin Zhang ◽  
Zhi-Hong Chen ◽  
Qiong-Xiang Zhai
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Developmental Disorders ◽  
Genetic Causes ◽  
Whole Exome

scholarly journals Genetic causes of cardiomyopathies identified by Whole Exome Sequencing

2013 ◽  
Vol 34 (suppl 1) ◽  
pp. 2605-2605
Author(s):  
B. Tomberli ◽  
F. Girolami ◽  
S. Bardi ◽  
M. Benelli ◽  
E. Contini ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Causes ◽  
Whole Exome

ISDN2014_0322: REMOVED: Identification of novel genetic causes of Rett syndrome‐like phenotypes by whole exome sequencing

2015 ◽  
Vol 47 (Part_A) ◽  
pp. 99-99
Author(s):  
Fátima Lopes ◽  
Mafalda Barbosa ◽  
Teresa Temudo ◽  
Joaquim Sá ◽  
Ana Isabel Dias ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Rett Syndrome ◽  
Genetic Causes ◽  
Whole Exome

scholarly journals Unraveling the genetic causes in large pedigrees with gout by whole‑exome sequencing

2020 ◽  
Author(s):  
Xiaoru Xia ◽  
Jing Jin ◽  
Zhen‑Ji Chen ◽  
Zhenni Zhou ◽  
Hui Chen ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Causes ◽  
Whole Exome

scholarly journals Diagnostic Whole Exome Sequencing in Patients with Short Stature

2018 ◽  
Author(s):  
Huijuan Zhu ◽  
Ziying Yang ◽  
Jun Sun ◽  
Wei Li ◽  
Hongbo Yang ◽  
...  
Keyword(s):  
Short Stature ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Utility ◽  
Molecular Diagnostic ◽  
Unknown Etiology ◽  
Growth Disorders ◽  
Pediatric Endocrinology ◽  
Genetic Causes ◽  
Whole Exome

AbstractShort stature is among the most common reasons for children being referred to the pediatric endocrinology clinics. The cause of short stature is broad, in which genetic factors play a substantial role, especially in primary growth disorders. However, identifying the molecular causes for short stature remains as a challenge because of the high heterogeneity of the phenotypes. Here, whole exome sequencing (WES) was used to identify the genetic causes of short stature with unknown etiology for 20 patients aged from 1 to 16 years old. The genetic causes of short stature were identified in 9 of the 20 patients, corresponding to a molecular diagnostic rate of 45%. Notably, in 2 of the 9 patients identified with genetic causes, the diagnosed diseases based on WES are different from the original clinical diagnosis. Our results highlight the clinical utility of WES in the diagnosis of rare, high heterogeneity disorders.

scholarly journals Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

2018 ◽  
Vol 11 (1) ◽  
Author(s):  
Gordon K C Leung ◽  
Christopher C Y Mak ◽  
Jasmine L F Fung ◽  
Wilfred H S Wong ◽  
Mandy H Y Tsang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Congenital Anomalies ◽  
Genetic Causes ◽  
Whole Exome

scholarly journals Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth

2020 ◽  
Author(s):  
Shahab Noorian ◽  
Nami Mohammadian Khonsari ◽  
Shahram Savad ◽  
Benyamin Hakak-Zargar ◽  
Tessa Voth ◽  
...  
Keyword(s):  
Short Stature ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Treatment Options ◽  
Idiopathic Short Stature ◽  
Genetic Causes ◽  
Rare Mutations ◽  
Whole Exome ◽  
Common Diagnosis

AbstractIdiopathic short stature (ISS) is a common diagnosis of exclusion in patients with short stature (SS). We aimed to identify the genetic causes of SS in patients with ISS and investigate treatment options. Fourteen children with diagnosis of ISS were identified, and whole-exome sequencing (WES) was subsequently conducted on blood-derived DNA. Five patients were correctly diagnosed with ISS and four had rare mutations that have not been previously reported. Four patients had mutations known to cause SS and one had a mutation that was known not to affect height. WES can help identify rare mutations implicated in ISS.

scholarly journals Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies

2016 ◽  
Vol 23 (2) ◽  
pp. 73-85
Author(s):  
Eglė Preikšaitienė ◽  
Laima Ambrozaitytė ◽  
Živilė Maldžienė ◽  
Aušra Morkūnienė ◽  
Loreta Cimbalistienė ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Single Gene ◽  
Genetic Alterations ◽  
Sequence Variants ◽  
Candidate Sequence ◽  
Genetic Causes ◽  
Genome Wide ◽  
Whole Exome

Background. Intellectual disability affects about 1–2% of the general population worldwide, and this is the leading socio-economic problem of health care. The evaluation of the genetic causes of intellectual disability is challenging because these conditions are genetically heterogeneous with many different genetic alterations resulting in clinically indistinguishable phenotypes. Genome wide molecular technologies are effective in a research setting for establishing the new genetic basis of a disease. We describe the first Lithuanian experience in genome-wide CNV detection and whole exome sequencing, presenting the results obtained in the research project UNIGENE.Materials and methods. The patients with developmental delay/intellectual disability have been investigated (n = 66). Diagnostic screening was performed using array-CGH technology. FISH and real time-PCR were used for the confirmation of gene-dose imbalances and investigation of parental samples. Whole exome sequencing using the next generation high throughput NGS technique was used to sequence the samples of 12 selected families.Results. 14 out of 66 patients had pathogenic copy number variants, and one patient had novel likely pathogenic aberration (microdeletion at 4p15.2). Twelve families have been processed for whole exome sequencing. Two identified sequence variants could be classified as pathogenic (in MECP2, CREBBP genes). The other families had several candidate intellectual disability gene variants that are of unclear clinical significance and must be further investigated for possible effect on the molecular pathways of intellectual disability.Conclusions. The genetic heterogeneity of intellectual disability requires genome wide approaches, including detection of chromosomal aberrations by chromosomal microarrays and whole exome sequencing capable of uncovering single gene mutations. This study demonstrates the  benefits and challenges that accompany the use of genome wide molecular technologies and provides genotype-phenotype information on 32 patients with chromosomal imbalances and ID candidate sequence variants.

scholarly journals Whole Exome Sequencing to Identify Genetic Causes of Short Stature

2014 ◽  
Vol 82 (1) ◽  
pp. 44-52 ◽  
Author(s):  
Michael H. Guo ◽  
Yiping Shen ◽  
Emily C. Walvoord ◽  
Timothy C. Miller ◽  
Jennifer E. Moon ◽  
...  
Keyword(s):  
Short Stature ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Causes ◽  
Whole Exome
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