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Related Experiment Video

Updated: Oct 2, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

CEDNIK syndrome with phenotypic variability.

Arti Nanda¹, Tarek M Karam¹, Atlal AlLafi¹

¹As'ad Al-Hamad Dermatology Center, Kuwait.

Pediatric Dermatology

|March 1, 2022

Summary

This summary is machine-generated.

CEDNIK syndrome, a rare neurodegenerative disorder, is caused by SNAP29 gene variants. This study reports two siblings with CEDNIK syndrome, noting the absence of palmoplantar keratoderma and a novel venous malformation.

Keywords:

CEDNIK syndrome palmoplantar keratoderma phenotypic variability

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Area of Science:

Genetics
Neurology
Dermatology

Background:

CEDNIK syndrome is a rare autosomal recessive disorder.
It is characterized by cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma.
The condition results from loss-of-function pathogenic variants in the SNAP29 gene.

Purpose of the Study:

To describe two siblings with CEDNIK syndrome from a consanguineous Syrian family.
To report a novel homozygous pathogenic variant in the SNAP29 gene.
To document clinical variations, including the absence of a cardinal sign and a previously unreported finding.

Main Methods:

Clinical evaluation of two affected siblings.
Genetic analysis to identify the causative variant.
Review of literature for comparison.

Main Results:

Both siblings presented with CEDNIK syndrome due to a homozygous SNAP29 variant [c.223delG(p.Val75Serf*28)].
Palmoplantar keratoderma, a typical feature, was notably absent in both patients.
One patient exhibited a verrucous venous malformation, a finding not previously associated with CEDNIK syndrome.

Conclusions:

This report expands the clinical spectrum of CEDNIK syndrome.
Highlights the genetic basis and phenotypic variability of SNAP29-related disorders.
Emphasizes the importance of comprehensive genetic and clinical evaluation in rare diseases.