CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants.

Natália Nunes, Malú Zamariolli, Anelisa Gollo Dantas, Paula Cola, Francisco de Agostinho Júnior, Flavia Balbo Piazzon, Vera Ayres Meloni, Maria Isabel Melaragno

European journal of medical genetics 2022 Mar

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CEDNIK (Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma) syndrome is a neuro ichthyotic syndrome characterized by a clinical constellation of features including severe developmental delay, microcephaly, and facial dysmorphism. Here, we report the clinical and molecular characterization of a patient with CEDNIK syndrome harboring two compound heterozygous variants in the SNAP29 gene. The patient presents a combination of a loss-of-function SNAP29 mutation and a ∼370 kb 22q11.2 deletion, each of these genetic variants inherited from one of the parents. This report provides detailed data of a patient with unprecedented genetic events leading to the CEDNIK phenotype and may contribute to the elucidation of this rare condition. Published by Elsevier Masson SAS.

Citation

Natália Nunes, Malú Zamariolli, Anelisa Gollo Dantas, Paula Cola, Francisco de Agostinho Júnior, Flavia Balbo Piazzon, Vera Ayres Meloni, Maria Isabel Melaragno. CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants. European journal of medical genetics. 2022 Mar;65(3):104440