scholarly journals Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability

2018 ◽  
Vol 6 ◽  
Author(s):  
Ji Yoon Han ◽  
Ja Hyun Jang ◽  
Joonhong Park ◽  
In Goo Lee
Keyword(s):  
Intellectual Disability ◽  
Next Generation Sequencing ◽  
Developmental Delay ◽  
Next Generation ◽  
Korean Patients ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

2016 ◽  
Vol 54 (2) ◽  
pp. 87-92 ◽  
Author(s):  
Francisco Martínez ◽  
Alfonso Caro-Llopis ◽  
Mónica Roselló ◽  
Silvestre Oltra ◽  
Sonia Mayo ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Next Generation Sequencing ◽  
Diagnostic Yield ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
High Diagnostic Yield ◽  
Generation Sequencing

scholarly journals Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability

Genes ◽  
2020 ◽  
Vol 11 (1) ◽  
pp. 51
Author(s):  
Nekane Ibarluzea ◽  
Ana Belén de la Hoz ◽  
Olatz Villate ◽  
Isabel Llano ◽  
Intzane Ocio ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Next Generation Sequencing ◽  
Fragile X ◽  
Next Generation ◽  
Sequencing Data ◽  
Targeted Next Generation Sequencing ◽  
Biochemical Assays ◽  
History Of ◽  
Male Patients ◽  
Generation Sequencing

X-linked intellectual disability (XLID) is known to contribute up to 10% of intellectual disability (ID) in males and could explain the increased ratio of affected males observed in patients with ID. Over the past decade, next-generation sequencing has clearly stimulated the gene discovery process and has become part of the diagnostic procedure. We have performed targeted next-generation sequencing of 82 XLID genes on 61 non-related male patients with suggestive non-syndromic XLID. These patients were initially referred to the molecular genetics laboratory to exclude Fragile X Syndrome. The cohort includes 47 male patients with suggestive X-linked family history of ID meaning that they had half-brothers or maternal cousins or uncles affected; and 14 male patients with ID and affected brothers whose mothers show skewed X-inactivation. Sequencing data analysis identified 17 candidate variants in 16 patients. Seven families could be re-contacted and variant segregation analysis of the respective eight candidate variants was performed: HUWE1, IQSEC2, MAOA, MED12, PHF8, SLC6A8, SLC9A6, and SYN1. Our results show the utility of targeted next-generation sequencing in unravelling the genetic origin of XLID, especially in retrospective cases. Variant segregation and additional studies like RNA sequencing and biochemical assays also helped in re-evaluating and further classifying the genetic variants found.

scholarly journals Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

2015 ◽  
Vol 36 (12) ◽  
pp. 1197-1204 ◽  
Author(s):  
Detelina Grozeva ◽  
Keren Carss ◽  
Olivera Spasic‐Boskovic ◽  
Maria‐Isabel Tejada ◽  
Jozef Gecz ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Next Generation Sequencing ◽  
Sequencing Analysis ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Next Generation Sequencing Analysis ◽  
Generation Sequencing

scholarly journals Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability

2020 ◽  
Vol 63 (6) ◽  
pp. 195-202 ◽  
Author(s):  
Ji Yoon Han ◽  
In Goo Lee
Keyword(s):  
Intellectual Disability ◽  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Developmental Delay ◽  
Best Practice ◽  
Molecular Genetic ◽  
Next Generation ◽  
Panel Testing ◽  
Prediction Of Prognosis ◽  
Generation Sequencing

Developments in next-generation sequencing (NGS) techogies have assisted in clarifying the diagnosis and treatment of developmental delay/intellectual disability (DD/ID) via molecular genetic testing. Advances in DNA sequencing technology have not only allowed the evolution of targeted panels but also, and more currently enabled genome-wide analyses to progress from research era to clinical practice. Broad acceptance of accuracy- guided targeted gene panel, whole-exome sequencing (WES), and whole-genome sequencing (WGS) for DD/ID need prospective analyses of the increasing cost-effectiveness versus conventional genetic testing. Choosing the appropriate sequencing method requires individual planning. Data are required to guide best-practice recommendations for genomic testing, regarding various clinical phenotypes in an etiologic approach. Targeted panel testing may be recommended as a first-tier testing approach for children with DD/ID. Family-based trio testing by WES/WGS can be used as a second test for DD/ ID in undiagnosed children who previously tested negative on a targeted panel. The role of NGS in molecular diagnostics, treatment, prediction of prognosis will continue to increase further in the coming years. Given the rapid pace of changes in the past 10 years, all medical providers should be aware of the changes in the transformative genetics field.

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