Further delineation of KIF21B-related neurodevelopmental disorders

Dhanya Lakshmi Narayanan, José Rivera Alvarez, Peggy Tilly, Michelle C. do Rosario, Vivekananda Bhat, Juliette D. Godin, Anju Shukla

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


Kinesin Family Member 21B (KIF21B) encoded by KIF21B (MIM*608322), belongs to the Kinesin superfamily proteins, which play a key role in microtubule organisation in neuronal dendrites and axons. Recently, heterozygous variants in KIF21B were implicated as the cause of intellectual disability and brain malformations in four unrelated individuals. We report a 9-year-old male with delayed speech, hyperactivity, poor social interaction, and autistic features. A parent-offspring trio exome sequencing identified a novel de novo rare heterozygous variant, NM_001252102.2: c.1513A>C, p.(Ser505Arg) in exon 11 of KIF21B. In vivo functional analysis using in utero electroporation in mouse embryonic cortex revealed that the expression of Ser505Arg KIF21B protein in the cerebral cortex impaired the radial migration of projection neurons, thus confirming the pathogenicity of the variant. Our report further validates pathogenic variants in KIF21B as a cause of neurodevelopmental disorder.

Original languageEnglish
Pages (from-to)729-733
Number of pages5
JournalJournal of Human Genetics
Issue number12
Publication statusPublished - 12-2022

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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