A pigmentary manifestation associated with PPP2R5D-related neurodevelopmental disorder: a case report and review of literature

Bulletin of the National Research Centre

Case Report

Eugénie Girouard¹  Emily Biden²  Philippe Pierre Robichaud³  Nadia Bouhamdani⁴  Mouna Ben Amor⁵ 

[1] Centre de Formation Médicale du Nouveau-Brunswick, 50 rue de la Francophonie, E1A 7R1, Moncton, NB, Canada;Horizon Health Network, The Moncton Hospital, 135 Macbeath Avenue, E1C 6Z8, Moncton, NB, Canada;Medical Genetics Department, Vitalité Health Network, Dr. Georges-L.-Dumont University Hospital Center, 330 University Avenue, E1C 2Z3, Moncton, NB, Canada;Atlantic Cancer Research Institute, 27 Providence Street, E1C 8X3, Moncton, NB, Canada;Chemistry and Biochemistry Department, Université de Moncton, 18 Antonine-Maillet Avenue, E1A 3E9, Moncton, NB, Canada;Medical Genetics Department, Vitalité Health Network, Dr. Georges-L.-Dumont University Hospital Center, 330 University Avenue, E1C 2Z3, Moncton, NB, Canada;Atlantic Cancer Research Institute, 27 Providence Street, E1C 8X3, Moncton, NB, Canada;Chemistry and Biochemistry Department, Université de Moncton, 18 Antonine-Maillet Avenue, E1A 3E9, Moncton, NB, Canada;Centre de Formation Médicale du Nouveau-Brunswick, 50 rue de la Francophonie, E1A 7R1, Moncton, NB, Canada;Medical Genetics Department, Vitalité Health Network, Dr. Georges-L.-Dumont University Hospital Center, 330 University Avenue, E1C 2Z3, Moncton, NB, Canada;Centre de Formation Médicale du Nouveau-Brunswick, 50 rue de la Francophonie, E1A 7R1, Moncton, NB, Canada;Department of Pediatrics, University of Sherbrooke, 3001, 12e Avenue Nord, J1H 5N4, Sherbrooke, QC, Canada;

关键词: PPP2R5D;    Neurodevelopmental disorder;    PP2A;    Intellectual disability;    Café-au-lait macules;    MRD35;    Ras/MAPK;    Case report;   

DOI  :  10.1186/s42269-023-01084-z

 received in 2023-05-09, accepted in 2023-07-03,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundThe 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 presentationHerein, 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.ConclusionsOur 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.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

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