Phenotypic and Molecular Features of a Large ODDD Family: Expanding the Spectrum of CX43-Related Disorder.

doi:10.3390/ijms27177655

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Article

Phenotypic and Molecular Features of a Large ODDD Family: Expanding the Spectrum of CX43-Related Disorder.

International journal of molecular sciences - 26 Aug 2026

Ambrosetti Irene, Palombo Flavia, D'Angeli Diego, Ormanbekova Danara, Fiorini Claudio, Pietra Andrea, Cristalli Carlotta Pia, Lodi Raffaele, Tonon Caterina, Liguori Rocco, Carelli Valerio, Rizzo Giovanni, Vaisfeld Alessandro

Abstract excerpt

We present a family of five siblings who came to our attention with a clinical and radiological diagnosis of familial hypomyelinating leukodystrophy. Despite brain white matter abnormalities being present in all siblings, the clinical phenotype was variable: the three brothers presented with a clear-cut late-onset spastic paraplegia, whereas the two sisters displayed only mild pyramidal signs. Molecular analysis...

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Topics

Female
Humans
Male
Connexin 43
Craniofacial Abnormalities

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Eye Abnormalities

Foot Deformities, Congenital

Magnetic Resonance Imaging

Mutation

Pedigree

Phenotype

Syndactyly

Tooth Abnormalities

Middle Aged

Aged

Source

Open in PubMed Open full text

Identifiers

PMID: 42737552
DOI: 10.3390/ijms27177655
PMCID: PMC13566726

Genes

GJA1

Variants

Provenance

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