The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report
The CDC42 (cell division cycle homolog 42) gene product, Cdc42 belongs to the Rho GTPase family which plays a pivotal role in the regulation of multiple cellular functions, including cell cycle progression, motility, migration, proliferation, transcription activation, and reactive oxygen species pro...
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| Format: | Article |
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Frontiers Media S.A.
2023-06-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1108852/full |
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| author | Aleksandra Szczawińska-Popłonyk Natalia Popłonyk Magdalena Badura-Stronka Magdalena Badura-Stronka Jerome Juengling Kerstin Huhn Saskia Biskup Saskia Biskup Bartłomiej Bancerz Jarosław Walkowiak |
| author_facet | Aleksandra Szczawińska-Popłonyk Natalia Popłonyk Magdalena Badura-Stronka Magdalena Badura-Stronka Jerome Juengling Kerstin Huhn Saskia Biskup Saskia Biskup Bartłomiej Bancerz Jarosław Walkowiak |
| author_sort | Aleksandra Szczawińska-Popłonyk |
| collection | DOAJ |
| description | The CDC42 (cell division cycle homolog 42) gene product, Cdc42 belongs to the Rho GTPase family which plays a pivotal role in the regulation of multiple cellular functions, including cell cycle progression, motility, migration, proliferation, transcription activation, and reactive oxygen species production. The Cdc42 molecule controls various tissue-specific functional pathways underpinning organogenesis as well as developmental integration of the hematopoietic and immune systems. Heterozygous c.191A>G (p.Tyr64Cys) pathogenic variants in CDC42 cause Takenouchi-Kosaki syndrome characterized by a spectrum of phenotypic features comprising psychomotor developmental delay, sensorineural hearing loss, growth retardation, facial dysmorphism, cardiovascular and urinary tract malformations, camptodactyly, accompanied by thrombocytopenia and immunodeficiency of variable degree. Herein, we report a pediatric patient with the Takenouchi-Kosaki syndrome due to a heterozygous p.Tyr64Cys variant in CDC42 manifesting as a congenital malformation complex accompanied by macrothrombocytopenia, poor specific antibody response, B and T cell immunodeficiency, and low serum immunoglobulin A level. We also suggst that feeding disorders, malnutrition, and a gastrointestinal infection could be a part of the phenotypic characteristics of Takenouchi-Kosaki syndrome supporting the hypothesis of immune dysregulation and systemic inflammation occurring in the p.Tyr64Cys variant in CDC42. |
| first_indexed | 2024-03-13T07:09:03Z |
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| id | doaj.art-d06ce5f2e2694610a483098cea3eee08 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-03-13T07:09:03Z |
| publishDate | 2023-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-d06ce5f2e2694610a483098cea3eee082023-06-06T04:57:09ZengFrontiers Media S.A.Frontiers in Genetics1664-80212023-06-011410.3389/fgene.2023.11088521108852The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case reportAleksandra Szczawińska-Popłonyk0Natalia Popłonyk1Magdalena Badura-Stronka2Magdalena Badura-Stronka3Jerome Juengling4Kerstin Huhn5Saskia Biskup6Saskia Biskup7Bartłomiej Bancerz8Jarosław Walkowiak9Department of Pediatric Pneumonology, Allergy and Clinical Immunology, Institute of Pediatrics, Karol Jonscher University Hospital, Poznań University of Medical Sciences, Poznań, PolandStudent Scientific Society, Poznań University of Medical Sciences, Poznań, PolandCenters for Medical Genetics Genesis, Poznań, PolandChair and Department of Medical Genetics, Poznań University of Medical Sciences, Poznań, PolandZentrum Fur Humangenetik Tübingen, Tübingen, GermanyZentrum Fur Humangenetik Tübingen, Tübingen, GermanyZentrum Fur Humangenetik Tübingen, Tübingen, GermanyCeGaT GmbH, Tübingen, GermanyDepartment of Pediatric Gastroenterology and Metabolic Diseases, Institute of Pediatrics, Karol Jonscher University Hospital, Poznań University of Medical Sciences, Poznań, PolandDepartment of Pediatric Gastroenterology and Metabolic Diseases, Institute of Pediatrics, Karol Jonscher University Hospital, Poznań University of Medical Sciences, Poznań, PolandThe CDC42 (cell division cycle homolog 42) gene product, Cdc42 belongs to the Rho GTPase family which plays a pivotal role in the regulation of multiple cellular functions, including cell cycle progression, motility, migration, proliferation, transcription activation, and reactive oxygen species production. The Cdc42 molecule controls various tissue-specific functional pathways underpinning organogenesis as well as developmental integration of the hematopoietic and immune systems. Heterozygous c.191A>G (p.Tyr64Cys) pathogenic variants in CDC42 cause Takenouchi-Kosaki syndrome characterized by a spectrum of phenotypic features comprising psychomotor developmental delay, sensorineural hearing loss, growth retardation, facial dysmorphism, cardiovascular and urinary tract malformations, camptodactyly, accompanied by thrombocytopenia and immunodeficiency of variable degree. Herein, we report a pediatric patient with the Takenouchi-Kosaki syndrome due to a heterozygous p.Tyr64Cys variant in CDC42 manifesting as a congenital malformation complex accompanied by macrothrombocytopenia, poor specific antibody response, B and T cell immunodeficiency, and low serum immunoglobulin A level. We also suggst that feeding disorders, malnutrition, and a gastrointestinal infection could be a part of the phenotypic characteristics of Takenouchi-Kosaki syndrome supporting the hypothesis of immune dysregulation and systemic inflammation occurring in the p.Tyr64Cys variant in CDC42.https://www.frontiersin.org/articles/10.3389/fgene.2023.1108852/fullTakenouchi-Kosaki syndromeCdc42c.191A>G variantantibody deficiencymacrothrombocytopenianeurodevelopmental delay |
| spellingShingle | Aleksandra Szczawińska-Popłonyk Natalia Popłonyk Magdalena Badura-Stronka Magdalena Badura-Stronka Jerome Juengling Kerstin Huhn Saskia Biskup Saskia Biskup Bartłomiej Bancerz Jarosław Walkowiak The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report Frontiers in Genetics Takenouchi-Kosaki syndrome Cdc42 c.191A>G variant antibody deficiency macrothrombocytopenia neurodevelopmental delay |
| title | The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report |
| title_full | The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report |
| title_fullStr | The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report |
| title_full_unstemmed | The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report |
| title_short | The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report |
| title_sort | clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with takenouchi kosaki syndrome due to a heterozygous c 191a g p tyr64cys variant in cdc42 a case report |
| topic | Takenouchi-Kosaki syndrome Cdc42 c.191A>G variant antibody deficiency macrothrombocytopenia neurodevelopmental delay |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1108852/full |
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