New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.

ABSTRACT:

Objective

To report 6 new patients with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome.

Methods

Clinical exome or targeted sequencing were performed to elucidate the molecular genetic cause in patients with neurocognitive abnormalities and brain imaging findings.

Results

CEDNIK syndrome is a rare genetic condition caused by biallelic pathogenic loss-of-function variants in synaptosomal-associated protein 29 (SNAP29), which encodes a vesicular membrane fusion protein. Clinical manifestations include significant developmental delay/intellectual disability (DD/ID), brain abnormalities, failure to thrive, and skin abnormalities. To date, 19 patients from 10 unrelated families with CEDNIK syndrome have been reported. We report 5 addit

SUBMITTER: Mah-Som AY 

PROVIDER: S-EPMC8105887 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature