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Article

Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome.

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

Barington Maria, Bak Mads, Kjartansdóttir Kristín Rós, Hansen Thomas van Overeem, Birkedal Ulf, Østergaard Elsebet, Hove Hanne Buciek

Abstract excerpt

Alu elements are short, interspersed elements located throughout the genome, playing a role in human diversity, and occasionally causing genetic diseases. Here, we report a novel Alu insertion causing Mowat-Wilson syndrome, a rare neurodevelopmental disorder, in an 8-year-old boy displaying the typical clinical features for Mowat-Wilson syndrome. The variant was not initially detected in genome sequencing data,...

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Identifiers

PMID: 38600862
DOI: 10.1002/ajmg.a.63581

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