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Article

A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.

American journal of medical genetics. Part A - 1 Mar 2024

Fellows Bridget J, Tolezano Giovanna Cantini, Pires Sara Ferreira, Ruegg Mischa S G, Knapp Karen M, Krepischi Ana Cristina Victorino, Bicknell Louise S

Abstract excerpt

Primary microcephaly (MCPH) is an autosomal recessive disorder characterized by head circumference of at least two standard deviations below the mean. Biallelic variants in the kinetochore gene KNL1 is a known cause of MCPH4. KNL1 is the central component of the KNL1-MIS12-NSL1 (KMN) network, which acts as the signaling hub of the kinetochore and is required for correct chromosomal segregation during mitosis. We...

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PMID: 37937525
DOI: 10.1002/ajmg.a.63468

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