Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability

Maria Asif; Maryam Anayat; Faiza Tariq; Tanzeela Noureen; Ghulam Naseer Ud Din; Christian Becker; Kerstin Becker; Holger Thiele; Ehtisham ul Haq Makhdoom; Pakeeza Arzoo Shaiq; Shahid M. Baig; Peter Nürnberg; Muhammad Sajid Hussain; Ghazala Kaukab Raja; Uzma Abdullah

doi:10.3390/genes14010048

Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability

Maria Asif, Maryam Anayat, Faiza Tariq, Tanzeela Noureen, Ghulam Naseer Ud Din, Christian Becker, Kerstin Becker, Holger Thiele, Ehtisham ul Haq Makhdoom, Pakeeza Arzoo Shaiq, Shahid M. Baig, Peter Nürnberg, Muhammad Sajid Hussain, Ghazala Kaukab Raja, Uzma Abdullah

Department of Biological & Biomedical Sciences, Medical College, Pakistan

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

7 Citations (Scopus)

Abstract

Intellectual disability (ID) is a condition of significant limitation of cognitive functioning and adaptive behavior, with 50% of etiology attributed to genetic predisposition. We recruited two consanguineous Pakistani families manifesting severe ID and developmental delay. The probands were subjected to whole exome sequencing (WES) and variants were further prioritized based on population frequency, predicted pathogenicity and functional relevance. The WES data analysis identified homozygous pathogenic variants in genes MBOAT7 and TRAPPC9. The pathogenicity of the variants was supported by co-segregation analysis and in silico tool. The findings of this study expand mutation spectrum and provide additional evidence to the role of MBOAT7 and TRAPPC9 in causation of ID.

Original language	English
Article number	48
Journal	Genes
Volume	14
Issue number	1
DOIs	https://doi.org/10.3390/genes14010048
Publication status	Published - Jan 2023

Keywords

MBOAT7
TRAPPC9
consanguineous
intellectual disability
whole-exome sequencing

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10.3390/genes14010048

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Asif, M., Anayat, M., Tariq, F., Noureen, T., Din, G. N. U., Becker, C., Becker, K., Thiele, H., Makhdoom, E. U. H., Shaiq, P. A., Baig, S. M., Nürnberg, P., Hussain, M. S., Raja, G. K., & Abdullah, U. (2023). Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability. Genes, 14(1), Article 48. https://doi.org/10.3390/genes14010048

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title = "Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability",

abstract = "Intellectual disability (ID) is a condition of significant limitation of cognitive functioning and adaptive behavior, with 50% of etiology attributed to genetic predisposition. We recruited two consanguineous Pakistani families manifesting severe ID and developmental delay. The probands were subjected to whole exome sequencing (WES) and variants were further prioritized based on population frequency, predicted pathogenicity and functional relevance. The WES data analysis identified homozygous pathogenic variants in genes MBOAT7 and TRAPPC9. The pathogenicity of the variants was supported by co-segregation analysis and in silico tool. The findings of this study expand mutation spectrum and provide additional evidence to the role of MBOAT7 and TRAPPC9 in causation of ID.",

keywords = "MBOAT7, TRAPPC9, consanguineous, intellectual disability, whole-exome sequencing",

author = "Maria Asif and Maryam Anayat and Faiza Tariq and Tanzeela Noureen and Din, {Ghulam Naseer Ud} and Christian Becker and Kerstin Becker and Holger Thiele and Makhdoom, {Ehtisham ul Haq} and Shaiq, {Pakeeza Arzoo} and Baig, {Shahid M.} and Peter N{\"u}rnberg and Hussain, {Muhammad Sajid} and Raja, {Ghazala Kaukab} and Uzma Abdullah",

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year = "2023",

month = jan,

doi = "10.3390/genes14010048",

language = "English",

volume = "14",

journal = "Genes",

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Asif, M, Anayat, M, Tariq, F, Noureen, T, Din, GNU, Becker, C, Becker, K, Thiele, H, Makhdoom, EUH, Shaiq, PA, Baig, SM, Nürnberg, P, Hussain, MS, Raja, GK & Abdullah, U 2023, 'Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability', Genes, vol. 14, no. 1, 48. https://doi.org/10.3390/genes14010048

TY - JOUR

T1 - Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability

AU - Asif, Maria

AU - Anayat, Maryam

AU - Tariq, Faiza

AU - Noureen, Tanzeela

AU - Din, Ghulam Naseer Ud

AU - Becker, Christian

AU - Becker, Kerstin

AU - Thiele, Holger

AU - Makhdoom, Ehtisham ul Haq

AU - Shaiq, Pakeeza Arzoo

AU - Baig, Shahid M.

AU - Nürnberg, Peter

AU - Hussain, Muhammad Sajid

AU - Raja, Ghazala Kaukab

AU - Abdullah, Uzma

PY - 2023/1

Y1 - 2023/1

N2 - Intellectual disability (ID) is a condition of significant limitation of cognitive functioning and adaptive behavior, with 50% of etiology attributed to genetic predisposition. We recruited two consanguineous Pakistani families manifesting severe ID and developmental delay. The probands were subjected to whole exome sequencing (WES) and variants were further prioritized based on population frequency, predicted pathogenicity and functional relevance. The WES data analysis identified homozygous pathogenic variants in genes MBOAT7 and TRAPPC9. The pathogenicity of the variants was supported by co-segregation analysis and in silico tool. The findings of this study expand mutation spectrum and provide additional evidence to the role of MBOAT7 and TRAPPC9 in causation of ID.

AB - Intellectual disability (ID) is a condition of significant limitation of cognitive functioning and adaptive behavior, with 50% of etiology attributed to genetic predisposition. We recruited two consanguineous Pakistani families manifesting severe ID and developmental delay. The probands were subjected to whole exome sequencing (WES) and variants were further prioritized based on population frequency, predicted pathogenicity and functional relevance. The WES data analysis identified homozygous pathogenic variants in genes MBOAT7 and TRAPPC9. The pathogenicity of the variants was supported by co-segregation analysis and in silico tool. The findings of this study expand mutation spectrum and provide additional evidence to the role of MBOAT7 and TRAPPC9 in causation of ID.

KW - MBOAT7

KW - TRAPPC9

KW - consanguineous

KW - intellectual disability

KW - whole-exome sequencing

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DO - 10.3390/genes14010048

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SN - 2073-4425

VL - 14

JO - Genes

JF - Genes

IS - 1

M1 - 48

ER -

Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability

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Keywords

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