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- Title
A novel pathogenic variation of DOCK6 gene: the genotype-phenotype correlation in Adams-Oliver syndrome.
- Authors
Nieto-Benito, Lula Maria; Suárez-Fernández, Ricardo; Campos-Domínguez, Minia
- Abstract
Background: Adams-Oliver syndrome (AOS) (#614,219) is a multiple malformation disorder characterized by the presence of aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD). Methods and results: We describe a confirmed case of AOS with a novel pathogenic variation in Dedicator Of Cytokinesis 6 (DOCK6) gene, with neurological abnormalities, characterized by the presence of a multiple malformation entity with extensive cardiological and neurological abnormalities. Conclusions: In AOS, genotype-phenotype correlations have been described. DOCK6 mutations appear to be related with congenital cardiac and central nervous system malformations associated with intellectual disability, as illustrated in the present case.
- Subjects
ARNOLD-Chiari deformity; CENTRAL nervous system; AGENESIS of corpus callosum; SYNDROMES; INTELLECTUAL disabilities; GENES
- Publication
Molecular Biology Reports, 2023, Vol 50, Issue 6, p5519
- ISSN
0301-4851
- Publication type
Case Study
- DOI
10.1007/s11033-023-08430-4