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Article

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.

Journal of human genetics - 1 Mar 2018

Helgeson Maria, Keller-Ramey Jennifer, Knight Johnson Amy, Lee Jennifer A, Magner Daniel B, Deml Brett, Deml Jacea, Hu Ying-Ying, Li Zejuan, Donato Kirsten, Das Soma, Laframboise Rachel, Tremblay Sandra, Krantz Ian, Noon Sarah, Hoganson George, Burton Jennifer, Schaaf Christian P, Del Gaudio Daniela

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a rare neurodevelopmental syndrome for which mutations in five causative genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex, account for ~70% of cases. Herein we report on four female Subjects who were found to carry novel intragenic deletions in HDAC8. In one case, the deletion was found in mosaic state and it was determined to be present in...

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Source

Identifiers

PMID: 29279609
DOI: 10.1038/s10038-017-0387-6

Genes

HDAC8
NIPBL
RAD21
SMC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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