# The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure

**Authors:** Federica Francesca L'Erario, Giuseppe Marangi, Anna Gloria Renzi, Marina Carapelle, Paolo Niccolò Doronzio, Domizia Pasquetti, Sabrina Maietta, Elena Sonnini, Annalisa Gazzellone, Marcella Zollino

PMC · DOI: 10.1016/j.gendis.2025.101546 · 2025-01-27

## Full-text entities

- **Genes:** KANSL1 (KAT8 regulatory NSL complex subunit 1) [NCBI Gene 284058] {aka C17DELq21.31, CENP-36, DEL17Q21.31, KDVS, KIAA1267, MSL1v1}, ZEB2 (zinc finger E-box binding homeobox 2) [NCBI Gene 9839] {aka HSPC082, SIP-1, SIP1, SMADIP1, ZFHX1B}, KAT8 (lysine acetyltransferase 8) [NCBI Gene 84148] {aka LIGOWS, MOF, MYST1, ZC2HC8, hMOF}
- **Diseases:** speech delay (MESH:D007805), Koolen-de Vries syndrome (MESH:C566476), Cancer (MESH:D009369), ID (MESH:C537985), intellectual disability (MESH:D008607), Mowat-Wilson syndrome (MESH:C536990), macrocephaly (MESH:D058627), neurodevelopmental disorder (MESH:D002658)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** c.3171_3172del, c.908_909del, c.985_986del

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12304670/full.md

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Source: https://tomesphere.com/paper/PMC12304670