Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis
Dual-specificity tyrosine kinase 1A (DYRK1A) is a member of the CMGC family that is linked to a multitude of neuronal development pathways. Both overexpression and insufficiency of this gene are associated with many recognizable disorders, including Down syndrome and DYRK1A-related intellectual disa...
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2024/2926555 |
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| _version_ | 1832565893922553856 |
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| author | Fiona Whitaker Alvaro Serrano |
| author_facet | Fiona Whitaker Alvaro Serrano |
| author_sort | Fiona Whitaker |
| collection | DOAJ |
| description | Dual-specificity tyrosine kinase 1A (DYRK1A) is a member of the CMGC family that is linked to a multitude of neuronal development pathways. Both overexpression and insufficiency of this gene are associated with many recognizable disorders, including Down syndrome and DYRK1A-related intellectual disability syndrome which is characterized by distinct physical features with microcephaly and global developmental delay. We report a case of DYRK1A-related intellectual disability syndrome caused by a novel mutation. |
| format | Article |
| id | doaj-art-e5159582094c41a596cc4fe02dc4d504 |
| institution | Kabale University |
| issn | 2090-6552 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-e5159582094c41a596cc4fe02dc4d5042025-02-03T01:06:26ZengWileyCase Reports in Genetics2090-65522024-01-01202410.1155/2024/2926555Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case AnalysisFiona Whitaker0Alvaro Serrano1East Tennessee State UniversityEast Tennessee State UniversityDual-specificity tyrosine kinase 1A (DYRK1A) is a member of the CMGC family that is linked to a multitude of neuronal development pathways. Both overexpression and insufficiency of this gene are associated with many recognizable disorders, including Down syndrome and DYRK1A-related intellectual disability syndrome which is characterized by distinct physical features with microcephaly and global developmental delay. We report a case of DYRK1A-related intellectual disability syndrome caused by a novel mutation.http://dx.doi.org/10.1155/2024/2926555 |
| spellingShingle | Fiona Whitaker Alvaro Serrano Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis Case Reports in Genetics |
| title | Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis |
| title_full | Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis |
| title_fullStr | Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis |
| title_full_unstemmed | Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis |
| title_short | Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis |
| title_sort | discovery of a novel dyrk1a mutation c 524del in intellectual development disorder autosomal dominant 7 mrd7 a comprehensive case analysis |
| url | http://dx.doi.org/10.1155/2024/2926555 |
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