Phenotype and genetic analysis of data collected within the first year of NeuroDev

The NeuroDev Project

doi:10.1016/j.neuron.2023.06.010

Phenotype and genetic analysis of data collected within the first year of NeuroDev

The NeuroDev Project

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

2 Citations (Scopus)

Abstract

Genetic association studies have made significant contributions to our understanding of the etiology of neurodevelopmental disorders (NDDs). However, these studies rarely focused on the African continent. The NeuroDev Project aims to address this diversity gap through detailed phenotypic and genetic characterization of children with NDDs from Kenya and South Africa. We present results from NeuroDev's first year of data collection, including phenotype data from 206 cases and clinical genetic analyses of 99 parent-child trios. Most cases met criteria for global developmental delay/intellectual disability (GDD/ID, 80.3%). Approximately half of the children with GDD/ID also met criteria for autism. Analysis of exome-sequencing data identified a pathogenic or likely pathogenic variant in 13 (17%) of the 75 cases from South Africa and 9 (38%) of the 24 cases from Kenya. Data from the trio pilot are publicly available, and the NeuroDev Project will continue to develop resources for the global genetics community.

Original language	English
Pages (from-to)	2800-2810.e5
Journal	Neuron
Volume	111
Issue number	18
DOIs	https://doi.org/10.1016/j.neuron.2023.06.010
Publication status	Published - 20 Sept 2023
Externally published	Yes

Keywords

Kenya
South Africa
autism
de novo variants
developmental disorders
diverse populations
exome sequencing
genetics
intellectual disability
phenotypes

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10.1016/j.neuron.2023.06.010

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title = "Phenotype and genetic analysis of data collected within the first year of NeuroDev",

abstract = "Genetic association studies have made significant contributions to our understanding of the etiology of neurodevelopmental disorders (NDDs). However, these studies rarely focused on the African continent. The NeuroDev Project aims to address this diversity gap through detailed phenotypic and genetic characterization of children with NDDs from Kenya and South Africa. We present results from NeuroDev's first year of data collection, including phenotype data from 206 cases and clinical genetic analyses of 99 parent-child trios. Most cases met criteria for global developmental delay/intellectual disability (GDD/ID, 80.3%). Approximately half of the children with GDD/ID also met criteria for autism. Analysis of exome-sequencing data identified a pathogenic or likely pathogenic variant in 13 (17%) of the 75 cases from South Africa and 9 (38%) of the 24 cases from Kenya. Data from the trio pilot are publicly available, and the NeuroDev Project will continue to develop resources for the global genetics community.",

keywords = "Kenya, South Africa, autism, de novo variants, developmental disorders, diverse populations, exome sequencing, genetics, intellectual disability, phenotypes",

author = "{The NeuroDev Project} and Patricia Kipkemoi and Kim, {Heesu Ally} and Bjorn Christ and Emily O'Heir and Jake Allen and Christina Austin-Tse and Samantha Baxter and Harrison Brand and Sam Bryant and Nick Buser and {de Menil}, Victoria and Emma Eastman and Serini Murugasen and Alice Galvin and Martha Kombe and Alfred Ngombo and Beatrice Mkubwa and Paul Mwangi and Collins Kipkoech and Alysia Lovgren and MacArthur, {Daniel G.} and Brigitte Melly and Katini Mwangasha and Alicia Martin and Nkambule, {Lethukuthula L.} and Alba Sanchis-Juan and Moriel Singer-Berk and Talkowski, {Michael E.} and Grace VanNoy and {van der Merwe}, Celia and Charles Newton and Anne O'Donnell-Luria and Amina Abubakar and Donald, {Kirsten A.} and Robinson, {Elise B.}",

note = "Publisher Copyright: {\textcopyright} 2023 The Authors",

year = "2023",

month = sep,

day = "20",

doi = "10.1016/j.neuron.2023.06.010",

language = "English",

volume = "111",

pages = "2800--2810.e5",

journal = "Neuron",

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T1 - Phenotype and genetic analysis of data collected within the first year of NeuroDev

AU - The NeuroDev Project

AU - Kipkemoi, Patricia

AU - Kim, Heesu Ally

AU - Christ, Bjorn

AU - O'Heir, Emily

AU - Allen, Jake

AU - Austin-Tse, Christina

AU - Baxter, Samantha

AU - Brand, Harrison

AU - Bryant, Sam

AU - Buser, Nick

AU - de Menil, Victoria

AU - Eastman, Emma

AU - Murugasen, Serini

AU - Galvin, Alice

AU - Kombe, Martha

AU - Ngombo, Alfred

AU - Mkubwa, Beatrice

AU - Mwangi, Paul

AU - Kipkoech, Collins

AU - Lovgren, Alysia

AU - MacArthur, Daniel G.

AU - Melly, Brigitte

AU - Mwangasha, Katini

AU - Martin, Alicia

AU - Nkambule, Lethukuthula L.

AU - Sanchis-Juan, Alba

AU - Singer-Berk, Moriel

AU - Talkowski, Michael E.

AU - VanNoy, Grace

AU - van der Merwe, Celia

AU - Newton, Charles

AU - O'Donnell-Luria, Anne

AU - Abubakar, Amina

AU - Donald, Kirsten A.

AU - Robinson, Elise B.

PY - 2023/9/20

Y1 - 2023/9/20

N2 - Genetic association studies have made significant contributions to our understanding of the etiology of neurodevelopmental disorders (NDDs). However, these studies rarely focused on the African continent. The NeuroDev Project aims to address this diversity gap through detailed phenotypic and genetic characterization of children with NDDs from Kenya and South Africa. We present results from NeuroDev's first year of data collection, including phenotype data from 206 cases and clinical genetic analyses of 99 parent-child trios. Most cases met criteria for global developmental delay/intellectual disability (GDD/ID, 80.3%). Approximately half of the children with GDD/ID also met criteria for autism. Analysis of exome-sequencing data identified a pathogenic or likely pathogenic variant in 13 (17%) of the 75 cases from South Africa and 9 (38%) of the 24 cases from Kenya. Data from the trio pilot are publicly available, and the NeuroDev Project will continue to develop resources for the global genetics community.

AB - Genetic association studies have made significant contributions to our understanding of the etiology of neurodevelopmental disorders (NDDs). However, these studies rarely focused on the African continent. The NeuroDev Project aims to address this diversity gap through detailed phenotypic and genetic characterization of children with NDDs from Kenya and South Africa. We present results from NeuroDev's first year of data collection, including phenotype data from 206 cases and clinical genetic analyses of 99 parent-child trios. Most cases met criteria for global developmental delay/intellectual disability (GDD/ID, 80.3%). Approximately half of the children with GDD/ID also met criteria for autism. Analysis of exome-sequencing data identified a pathogenic or likely pathogenic variant in 13 (17%) of the 75 cases from South Africa and 9 (38%) of the 24 cases from Kenya. Data from the trio pilot are publicly available, and the NeuroDev Project will continue to develop resources for the global genetics community.

KW - Kenya

KW - South Africa

KW - autism

KW - de novo variants

KW - developmental disorders

KW - diverse populations

KW - exome sequencing

KW - genetics

KW - intellectual disability

KW - phenotypes

UR - http://www.scopus.com/inward/record.url?scp=85170078641&partnerID=8YFLogxK

U2 - 10.1016/j.neuron.2023.06.010

DO - 10.1016/j.neuron.2023.06.010

M3 - Article

C2 - 37463579

AN - SCOPUS:85170078641

SN - 0896-6273

VL - 111

SP - 2800-2810.e5

JO - Neuron

JF - Neuron

IS - 18

ER -

Phenotype and genetic analysis of data collected within the first year of NeuroDev

Abstract

Keywords

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