Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.

doi:10.1007/s13258-021-01070-7

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Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.

Genes & genomics - 1 May 2021

Rasool Iqra Ghulam, Zahoor Muhammad Yasir, Iqbal Muhammad, Anjum Aftab Ahmad, Ashraf Fatima, Abbas Hafiz Qamar, Baig Hafiz Muhammad Azhar, Mahmood Tariq, Shehzad Wasim

Abstract excerpt

BACKGROUND: Intellectual disability (ID) is a heterogeneous disorder affecting 1-3% of the population. Elucidation of monogenic variants for ID is a current challenge. These variants can be better demonstrated in consanguineous affected families. OBJECTIVE: The study was designed to find the genetic variants of ID in consanguineous families. METHODS: We analyzed five unrelated consanguineous Pakistani families...

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PMID: 33710595
DOI: 10.1007/s13258-021-01070-7

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