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Case Reports
. 2022 Jan 18;13(2):168.
doi: 10.3390/genes13020168.

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

Mateusz Biela  1 , Malgorzata Rydzanicz  2 , Agnieszka Jankowska  3 , Agnieszka Szlagatys-Sidorkiewicz  3 , Anna Rozensztrauch  1 , Rafał Płoski  2 , Robert Smigiel  1
Affiliations
Case Reports

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

Mateusz Biela et al. Genes (Basel). .

Abstract

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.

Keywords: DEGCAGS syndrome; ZNF699 gene; neurodevelopmental disorder.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Dysmorphic features of the reported patient.
Figure 2
Figure 2
Family study results. Integrative Genomic Viewer screenshots are presented.
See this image and copyright information in PMC

References

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