| Autor: |
Philippe Pierre Robichaud, Nadia Bouhamdani, Eugénie Girouard, Emily Biden, Mouna Ben Amor |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Bulletin of the National Research Centre, Vol 47, Iss 1, Pp 1-10 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2522-8307 |
| DOI: |
10.1186/s42269-023-01084-z |
| Popis: |
Abstract Background The protein phosphatase 2 (PP2A) is one of the major serine/threonine phosphatases in humans. The most frequently reported pathogenic PP2A variants have been identified in PPP2R5D, encoding the regulatory subunit B’ delta, and are known to cause intellectual developmental disorder autosomal dominant 35 (MRD35). Case presentation Herein, we describe a unique case of a patient with a heterozygous pathogenic variant, c.592G>A/p.(Glu198Lys) in the PPP2R5D gene which was associated with hyperpigmented skin lesions arising from increased melanin production, known as Café-au-lait macules (CALMs). To our knowledge, this is the first reported case of a PPP2R5D-related neurodevelopmental disorder associated with CALMs. Conclusions Our findings suggest that the documentation and reporting of CALMs when associated with one or more physical and/or neurodevelopmental findings are of utmost importance as they could be indicative of an underreported phenotype and may extend the phenotypic spectrum of MRD35. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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