CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants

Autor(es)

Nunes, Natalia ; Zamariolli, Malu ; Dantas, Anelisa Gollo ; Cola, Paula ; de Agostinho Junior, Francisco ; Piazzon, Flavia Balbo ; Meloni, Vera Ayres ; Melaragno, Maria Isabel

• Tipo de documento: Artigo Científico
• Fonte: EUROPEAN JOURNAL OF MEDICAL GENETICS; v. 65, n. 3, p. 4-pg., 2022-03-01.

Resumo

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. (AU)

• Processo FAPESP: 19/21644-0 - Impacto de variantes genéticas na estabilidade do genoma e seus efeitos no fenótipo
• Beneficiário: Maria Isabel de Souza Aranha Melaragno
• Modalidade de apoio: Auxílio à Pesquisa - Temático