A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures
Summary: PPP2R5C encodes a B-type regulatory subunit of protein phosphatase 2A (PP2A). This protein serine/threonine phosphatase is a component of multiple signaling pathways and is an established negative regulator of cell division, growth, and proliferation. De novo variants in other subunits of P...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-04-01
|
| Series: | HGG Advances |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666247724001349 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1841545917029679104 |
|---|---|
| author | Alison M. Muir Adi Reich Fanggeng Zou Deanna Alexis Carere Sue Moyer Harasink Lily Tran Bobbi McGivern |
| author_facet | Alison M. Muir Adi Reich Fanggeng Zou Deanna Alexis Carere Sue Moyer Harasink Lily Tran Bobbi McGivern |
| author_sort | Alison M. Muir |
| collection | DOAJ |
| description | Summary: PPP2R5C encodes a B-type regulatory subunit of protein phosphatase 2A (PP2A). This protein serine/threonine phosphatase is a component of multiple signaling pathways and is an established negative regulator of cell division, growth, and proliferation. De novo variants in other subunits of PP2A are associated with neurodevelopment disorders and intellectual disability (ID). We report two unrelated affected individuals with a recurrent variant in PPP2R5C (c.457G>A: p.(Glu153Lys)). Core features in affected individuals include macrocephaly, ID, hypotonia, and seizures. The Glu153 residue is part of a highly conserved acidic loop and directly interacts with the PP2A catalytic subunit. Our results support heterozygous PPP2R5C missense variants as a potential cause of macrocephaly and neurodevelopmental disorder. |
| format | Article |
| id | doaj-art-81811bff21fe47fabad3d9fb01786067 |
| institution | Kabale University |
| issn | 2666-2477 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | HGG Advances |
| spelling | doaj-art-81811bff21fe47fabad3d9fb017860672025-01-11T06:42:00ZengElsevierHGG Advances2666-24772025-04-0162100394A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizuresAlison M. Muir0Adi Reich1Fanggeng Zou2Deanna Alexis Carere3Sue Moyer Harasink4Lily Tran5Bobbi McGivern6GeneDx, LLC, Gaithersburg, MD 20877, USAGeneDx, LLC, Gaithersburg, MD 20877, USAGeneDx, LLC, Gaithersburg, MD 20877, USAGeneDx, LLC, Gaithersburg, MD 20877, USANemours Children’s Health-Delaware, Division of Neurology, Wilmington, DE 19803, USANemours Children’s Health-Delaware, Division of Neurology, Wilmington, DE 19803, USAGeneDx, LLC, Gaithersburg, MD 20877, USA; Corresponding authorSummary: PPP2R5C encodes a B-type regulatory subunit of protein phosphatase 2A (PP2A). This protein serine/threonine phosphatase is a component of multiple signaling pathways and is an established negative regulator of cell division, growth, and proliferation. De novo variants in other subunits of PP2A are associated with neurodevelopment disorders and intellectual disability (ID). We report two unrelated affected individuals with a recurrent variant in PPP2R5C (c.457G>A: p.(Glu153Lys)). Core features in affected individuals include macrocephaly, ID, hypotonia, and seizures. The Glu153 residue is part of a highly conserved acidic loop and directly interacts with the PP2A catalytic subunit. Our results support heterozygous PPP2R5C missense variants as a potential cause of macrocephaly and neurodevelopmental disorder.http://www.sciencedirect.com/science/article/pii/S2666247724001349PPP2R5Ccandidate genegene discoverymacrocephalyseizureintellectual disability |
| spellingShingle | Alison M. Muir Adi Reich Fanggeng Zou Deanna Alexis Carere Sue Moyer Harasink Lily Tran Bobbi McGivern A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures HGG Advances PPP2R5C candidate gene gene discovery macrocephaly seizure intellectual disability |
| title | A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures |
| title_full | A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures |
| title_fullStr | A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures |
| title_full_unstemmed | A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures |
| title_short | A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures |
| title_sort | recurrent variant in ppp2r5c identified in individuals with macrocephaly intellectual disability and seizures |
| topic | PPP2R5C candidate gene gene discovery macrocephaly seizure intellectual disability |
| url | http://www.sciencedirect.com/science/article/pii/S2666247724001349 |
| work_keys_str_mv | AT alisonmmuir arecurrentvariantinppp2r5cidentifiedinindividualswithmacrocephalyintellectualdisabilityandseizures AT adireich arecurrentvariantinppp2r5cidentifiedinindividualswithmacrocephalyintellectualdisabilityandseizures AT fanggengzou arecurrentvariantinppp2r5cidentifiedinindividualswithmacrocephalyintellectualdisabilityandseizures AT deannaalexiscarere arecurrentvariantinppp2r5cidentifiedinindividualswithmacrocephalyintellectualdisabilityandseizures AT suemoyerharasink arecurrentvariantinppp2r5cidentifiedinindividualswithmacrocephalyintellectualdisabilityandseizures AT lilytran arecurrentvariantinppp2r5cidentifiedinindividualswithmacrocephalyintellectualdisabilityandseizures AT bobbimcgivern arecurrentvariantinppp2r5cidentifiedinindividualswithmacrocephalyintellectualdisabilityandseizures AT alisonmmuir recurrentvariantinppp2r5cidentifiedinindividualswithmacrocephalyintellectualdisabilityandseizures AT adireich recurrentvariantinppp2r5cidentifiedinindividualswithmacrocephalyintellectualdisabilityandseizures AT fanggengzou recurrentvariantinppp2r5cidentifiedinindividualswithmacrocephalyintellectualdisabilityandseizures AT deannaalexiscarere recurrentvariantinppp2r5cidentifiedinindividualswithmacrocephalyintellectualdisabilityandseizures AT suemoyerharasink recurrentvariantinppp2r5cidentifiedinindividualswithmacrocephalyintellectualdisabilityandseizures AT lilytran recurrentvariantinppp2r5cidentifiedinindividualswithmacrocephalyintellectualdisabilityandseizures AT bobbimcgivern recurrentvariantinppp2r5cidentifiedinindividualswithmacrocephalyintellectualdisabilityandseizures |