Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals.

doi:10.1002/cga.70064

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Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals.

Congenital anomalies - 1 Jan 2026

Kuroda Yukiko, Nagai Koki, Saito Yoko, Shimokaze Tomoyuki, Aida Noriko, Satake Tomoko, Naruto Takuya, Kurosawa Kenji

Abstract excerpt

The HDAC8 variant is causative for X-linked Cornelia de Lange syndrome (CdLS) and shows skewed X-inactivation in heterozygous female patients, who tend to present with milder phenotypes than hemizygous male patients. We report a slightly deep intronic HDAC8 variant, NM_018486.3:c.112-15C>A, in a family with CdLS. Patient 1 (male) had a hemizygous HDAC8 variant, showed a severe CdLS phenotype including profound...

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PMID: 42157730
DOI: 10.1002/cga.70064
PMCID: PMC13422257

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HDAC8

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