Applying whole exome sequencing in a consanguineous population with autism spectrum disorder

Watfa Al-Mamari; Ahmed B. Idris; Khalid Al-Thihli; Reem Abdulrahim; Saquib Jalees; Muna Al-Jabri; Ahlam Gabr; Fathiya Al Murshedi; Adila Al Kindy; Intisar Al-Hadabi; Zandrè Bruwer; M. Mazharul Islam; Abeer Alsayegh

doi:10.1080/20473869.2021.1937000

Applying whole exome sequencing in a consanguineous population with autism spectrum disorder

Watfa Al-Mamari^*, Ahmed B. Idris, Khalid Al-Thihli, Reem Abdulrahim, Saquib Jalees, Muna Al-Jabri, Ahlam Gabr, Fathiya Al Murshedi, Adila Al Kindy, Intisar Al-Hadabi, Zandrè Bruwer, M. Mazharul Islam, Abeer Alsayegh

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Abstract

This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven children were included in the analysis, 63% were male and 37% were females. 77.3% had a suspected syndromic aetiology of which 68% had co-existent central nervous system (CNS) clinical features, while 69% had other systems involved. The diagnostic yield of WES in our cohort with ASD was 34%. Children with seizures were more likely to have positive WES results (46% vs. 31%, p = 0.042). Probands with suspected syndromic ASD aetiology showed no significant differential impact on the diagnostic yield of WES.

Original language	English
Pages (from-to)	190-200
Number of pages	11
Journal	International Journal of Developmental Disabilities
Volume	69
Issue number	2
DOIs	https://doi.org/10.1080/20473869.2021.1937000
Publication status	Published - Jun 21 2021

Keywords

Autism spectrum disorder
clinical predictors
whole exome sequencing

ASJC Scopus subject areas

Developmental and Educational Psychology
Psychiatry and Mental health

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1080/20473869.2021.1937000

Cite this

Al-Mamari, W., Idris, A. B., Al-Thihli, K., Abdulrahim, R., Jalees, S., Al-Jabri, M., Gabr, A., Al Murshedi, F., Al Kindy, A., Al-Hadabi, I., Bruwer, Z., Islam, M. M., & Alsayegh, A. (2021). Applying whole exome sequencing in a consanguineous population with autism spectrum disorder. International Journal of Developmental Disabilities, 69(2), 190-200. https://doi.org/10.1080/20473869.2021.1937000

Al-Mamari, W , Idris, AB , Al-Thihli, K, Abdulrahim, R, Jalees, S, Al-Jabri, M, Gabr, A, Al Murshedi, F, Al Kindy, A, Al-Hadabi, I, Bruwer, Z, Islam, MM & Alsayegh, A 2021, 'Applying whole exome sequencing in a consanguineous population with autism spectrum disorder', International Journal of Developmental Disabilities, vol. 69, no. 2, pp. 190-200. https://doi.org/10.1080/20473869.2021.1937000

@article{23a453f015554023b2038818d67935ee,

title = "Applying whole exome sequencing in a consanguineous population with autism spectrum disorder",

abstract = "This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven children were included in the analysis, 63% were male and 37% were females. 77.3% had a suspected syndromic aetiology of which 68% had co-existent central nervous system (CNS) clinical features, while 69% had other systems involved. The diagnostic yield of WES in our cohort with ASD was 34%. Children with seizures were more likely to have positive WES results (46% vs. 31%, p = 0.042). Probands with suspected syndromic ASD aetiology showed no significant differential impact on the diagnostic yield of WES.",

keywords = "Autism spectrum disorder, clinical predictors, whole exome sequencing",

author = "Watfa Al-Mamari and Idris, {Ahmed B.} and Khalid Al-Thihli and Reem Abdulrahim and Saquib Jalees and Muna Al-Jabri and Ahlam Gabr and {Al Murshedi}, Fathiya and {Al Kindy}, Adila and Intisar Al-Hadabi and Zandr{\`e} Bruwer and Islam, {M. Mazharul} and Abeer Alsayegh",

note = "Publisher Copyright: {\textcopyright} The British Society of Developmental Disabilities 2021.",

year = "2021",

month = jun,

day = "21",

doi = "10.1080/20473869.2021.1937000",

language = "English",

volume = "69",

pages = "190--200",

journal = "International Journal of Developmental Disabilities",

issn = "2047-3869",

publisher = "Maney Publishing",

number = "2",

}

TY - JOUR

T1 - Applying whole exome sequencing in a consanguineous population with autism spectrum disorder

AU - Al-Mamari, Watfa

AU - Idris, Ahmed B.

AU - Al-Thihli, Khalid

AU - Abdulrahim, Reem

AU - Jalees, Saquib

AU - Al-Jabri, Muna

AU - Gabr, Ahlam

AU - Al Murshedi, Fathiya

AU - Al Kindy, Adila

AU - Al-Hadabi, Intisar

AU - Bruwer, Zandrè

AU - Islam, M. Mazharul

AU - Alsayegh, Abeer

PY - 2021/6/21

Y1 - 2021/6/21

N2 - This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven children were included in the analysis, 63% were male and 37% were females. 77.3% had a suspected syndromic aetiology of which 68% had co-existent central nervous system (CNS) clinical features, while 69% had other systems involved. The diagnostic yield of WES in our cohort with ASD was 34%. Children with seizures were more likely to have positive WES results (46% vs. 31%, p = 0.042). Probands with suspected syndromic ASD aetiology showed no significant differential impact on the diagnostic yield of WES.

AB - This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven children were included in the analysis, 63% were male and 37% were females. 77.3% had a suspected syndromic aetiology of which 68% had co-existent central nervous system (CNS) clinical features, while 69% had other systems involved. The diagnostic yield of WES in our cohort with ASD was 34%. Children with seizures were more likely to have positive WES results (46% vs. 31%, p = 0.042). Probands with suspected syndromic ASD aetiology showed no significant differential impact on the diagnostic yield of WES.

KW - Autism spectrum disorder

KW - clinical predictors

KW - whole exome sequencing

UR - http://www.scopus.com/inward/record.url?scp=85108280361&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85108280361&partnerID=8YFLogxK

U2 - 10.1080/20473869.2021.1937000

DO - 10.1080/20473869.2021.1937000

M3 - Article

C2 - 37025335

AN - SCOPUS:85108280361

SN - 2047-3869

VL - 69

SP - 190

EP - 200

JO - International Journal of Developmental Disabilities

JF - International Journal of Developmental Disabilities

IS - 2

ER -

Applying whole exome sequencing in a consanguineous population with autism spectrum disorder

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this