[en] 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.
Disciplines :
Genetics & genetic processes Neurology
Author, co-author :
Nunes, Natália; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil
Zamariolli, Malú; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil
Dantas, Anelisa Gollo; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil
Cola, Paula; Medicine Department, Marília University (UNIMAR), Marília, São Paulo, Brazil
de Agostinho Júnior, Francisco; Medicine Department, Marília University (UNIMAR), Marília, São Paulo, Brazil
Balbo Piazzon, Flavia ; Université de Liège - ULiège > Département des sciences cliniques
Meloni, Vera Ayres; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil, Medicine Department, Marília University (UNIMAR), Marília, São Paulo, Brazil
Melaragno, Maria Isabel ; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address: melaragno.maria@unifesp.br
Language :
English
Title :
CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants.
This work was supported by São Paulo Research Foundation, Brazil (FAPESP , grant # 2019/21644-0 ), Coordenação de Aperfeiçoamento de Pessoal de Nível Superior, Brazil (CAPES) , and Projeto Amor de Criança, Marília University, São Paulo, Brazil .This work was supported by S?o Paulo Research Foundation, Brazil (FAPESP, grant #2019/21644-0), Coordena??o de Aperfei?oamento de Pessoal de N?vel Superior, Brazil (CAPES), and Projeto Amor de Crian?a, Mar?lia University, S?o Paulo, Brazil.
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