4.6 Article

Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation

期刊

GENES
卷 13, 期 2, 页码 -

出版社

MDPI
DOI: 10.3390/genes13020168

关键词

ZNF699 gene; DEGCAGS syndrome; neurodevelopmental disorder

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  1. Ministry of Science and Higher Education in the Regional Initiative of Excellence program [016/RID/2018/19, 9 354 023,74 PLN]

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The ZNF699 gene mutation is associated with the DEGCAGS syndrome, characterized by global developmental delay and systemic manifestations. The symptoms of the new reported case are similar to those of previously described patients.
Until 2021, the ZNF699 gene was not associated with any human genetic disease. There were only two studies exploring the associations between variants in ZNF699 and alcohol dependence. In 2021 Bertoli-Avella et al. reported 13 patients with a ZNF699 gene mutation. All patients presented global developmental delay and with systemic manifestations. A new phenotype was proposed and called DEGCAGS syndrome (OMIM 619488) (developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities). The DEGCAGS syndrome is inherited in the autosomal recessive mode. Here, we report a new case (14th up to date) of a patient with ZNF699 gene mutation, whose symptoms and dysmorphic features were similar to those presented by Bertoli-Avella et al. In addition, we have analyzed the frequency of occurrence of particular symptoms in the patients described so far.

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