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Article

Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability.

Journal of medical genetics - 1 May 2022

Ravindran Ethiraj, Gutierrez de Velazco Cynthia, Ghazanfar Ali, Kraemer Nadine, Zaqout Sami, Waheed Abdul, Hanif Mohsan, Mughal Sadia, Prigione Alessandro, Li Na, Fang Xiang, Hu Hao, Kaindl Angela M

Abstract excerpt

BACKGROUND: Minichromosomal maintenance (MCM) complex components 2, 4, 5 and 6 have been linked to human disease with phenotypes including microcephaly and intellectual disability. The MCM complex has DNA helicase activity and is thereby important for the initiation and elongation of the replication fork and highly expressed in proliferating neural stem cells. METHODS: Whole-exome sequencing was applied to...

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Identifiers

PMID: 34059554
DOI: 10.1136/jmedgenet-2020-107518
PMCID: PMC9046757

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