Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by <i>ZNF699</i> Gene Mutation
Until 2021, the <i>ZNF699</i> gene was not associated with any human genetic disease. There were only two studies exploring the associations between variants in <i>ZNF699</i> and alcohol dependence. In 2021 Bertoli-Avella et al. reported 13 patients with a <i>ZNF699<...
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MDPI AG
2022-01-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/2/168 |
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| author | Mateusz Biela Malgorzata Rydzanicz Agnieszka Jankowska Agnieszka Szlagatys-Sidorkiewicz Anna Rozensztrauch Rafał Płoski Robert Smigiel |
| author_facet | Mateusz Biela Malgorzata Rydzanicz Agnieszka Jankowska Agnieszka Szlagatys-Sidorkiewicz Anna Rozensztrauch Rafał Płoski Robert Smigiel |
| author_sort | Mateusz Biela |
| collection | DOAJ |
| description | Until 2021, the <i>ZNF699</i> gene was not associated with any human genetic disease. There were only two studies exploring the associations between variants in <i>ZNF699</i> and alcohol dependence. In 2021 Bertoli-Avella et al. reported 13 patients with a <i>ZNF699</i> 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 <i>ZNF699</i> 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. |
| first_indexed | 2024-03-09T21:53:48Z |
| format | Article |
| id | doaj.art-660a339e5c85490dba1310a874e60ab4 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T21:53:48Z |
| publishDate | 2022-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-660a339e5c85490dba1310a874e60ab42023-11-23T20:02:34ZengMDPI AGGenes2073-44252022-01-0113216810.3390/genes13020168Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by <i>ZNF699</i> Gene MutationMateusz Biela0Malgorzata Rydzanicz1Agnieszka Jankowska2Agnieszka Szlagatys-Sidorkiewicz3Anna Rozensztrauch4Rafał Płoski5Robert Smigiel6Department of Familial and Pediatric Nursing, Wroclaw Medical University, 51-618 Wroclaw, PolandDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, PolandDepartment of Paediatrics, Gastroenterology, Allergology and Paediatric Nutrition, Medical University of Gdansk, 80-803 Gdansk, PolandDepartment of Paediatrics, Gastroenterology, Allergology and Paediatric Nutrition, Medical University of Gdansk, 80-803 Gdansk, PolandDepartment of Familial and Pediatric Nursing, Wroclaw Medical University, 51-618 Wroclaw, PolandDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, PolandDepartment of Familial and Pediatric Nursing, Wroclaw Medical University, 51-618 Wroclaw, PolandUntil 2021, the <i>ZNF699</i> gene was not associated with any human genetic disease. There were only two studies exploring the associations between variants in <i>ZNF699</i> and alcohol dependence. In 2021 Bertoli-Avella et al. reported 13 patients with a <i>ZNF699</i> 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 <i>ZNF699</i> 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.https://www.mdpi.com/2073-4425/13/2/168<i>ZNF699</i> geneDEGCAGS syndromeneurodevelopmental disorder |
| spellingShingle | Mateusz Biela Malgorzata Rydzanicz Agnieszka Jankowska Agnieszka Szlagatys-Sidorkiewicz Anna Rozensztrauch Rafał Płoski Robert Smigiel Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by <i>ZNF699</i> Gene Mutation Genes <i>ZNF699</i> gene DEGCAGS syndrome neurodevelopmental disorder |
| title | Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by <i>ZNF699</i> Gene Mutation |
| title_full | Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by <i>ZNF699</i> Gene Mutation |
| title_fullStr | Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by <i>ZNF699</i> Gene Mutation |
| title_full_unstemmed | Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by <i>ZNF699</i> Gene Mutation |
| title_short | Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by <i>ZNF699</i> Gene Mutation |
| title_sort | further delineation of developmental delay with gastrointestinal cardiovascular genitourinary and skeletal abnormalities caused by i znf699 i gene mutation |
| topic | <i>ZNF699</i> gene DEGCAGS syndrome neurodevelopmental disorder |
| url | https://www.mdpi.com/2073-4425/13/2/168 |
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