Phenotypic Manifestations of a New Variant in HDAC4 Gene Article Swipe
Monica Ianniello
,
Valentina De Angelis
,
Alessandro Ottaiano
,
Raffella Ruggiero
,
Roberto Sirica
,
Nadia Petrillo
,
Antonio Fico
,
Tania Cerbone
,
Cecilia Rosania
,
Raffaella Mormile
,
Carmine Picone
,
Mariachiara Santorsola
,
Giovanni Savarese
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.b.33029
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.b.33029
Psychomotor development delays affect 1%–3% of children and encompass a wide range of motor, cognitive, and social impairments. The histone deacetylase 4 ( HDAC4 ) gene, critical for neurodevelopmental pathways, has been associated with developmental delays, autism spectrum disorders, and cognitive impairments. Here, we report a case of a female patient with global psychomotor developmental delay, hypotonia, and feeding difficulties since infancy. By the age of seven, she developed epilepsy, later diagnosed as Lennox–Gastaut syndrome. Brain magnetic resonance imaging revealed reduced white matter and polymicrogyria‐like cortical malformations, primarily in the fronto‐basal regions. Whole‐exome sequencing identified a novel de novo HDAC4 mutation (p.Gln1046AspfsTer29; c.3136_3137delCA), resulting in a frameshift and a premature stop codon. Additional phenotypic features included distinct craniofacial abnormalities and hypertrichosis. This report highlights the critical role of HDAC4 in psychomotor development and cognitive function, expands the phenotypic spectrum associated with HDAC4 mutations, and suggests a potential link to epilepsy and cortical malformations.
Related Topics
Concepts
HDAC4
Hypotonia
Psychomotor learning
Polymicrogyria
Autism
Phenotype
Epilepsy
Frameshift mutation
Exome sequencing
Autism spectrum disorder
White matter
Medicine
Genetics
Neuroscience
Biology
Cognition
Magnetic resonance imaging
Histone deacetylase
Gene
Psychiatry
Histone
Radiology
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/ajmg.b.33029
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.b.33029
- OA Status
- bronze
- Cited By
- 1
- References
- 38
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4409086607
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4409086607Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1002/ajmg.b.33029Digital Object Identifier
- Title
-
Phenotypic Manifestations of a New Variant in HDAC4 GeneWork title
- Type
-
articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2025Year of publication
- Publication date
-
2025-04-01Full publication date if available
- Authors
-
Monica Ianniello, Valentina De Angelis, Alessandro Ottaiano, Raffella Ruggiero, Roberto Sirica, Nadia Petrillo, Antonio Fico, Tania Cerbone, Cecilia Rosania, Raffaella Mormile, Carmine Picone, Mariachiara Santorsola, Giovanni SavareseList of authors in order
- Landing page
-
https://doi.org/10.1002/ajmg.b.33029Publisher landing page
- PDF URL
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.b.33029Direct link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.b.33029Direct OA link when available
- Concepts
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HDAC4, Hypotonia, Psychomotor learning, Polymicrogyria, Autism, Phenotype, Epilepsy, Frameshift mutation, Exome sequencing, Autism spectrum disorder, White matter, Medicine, Genetics, Neuroscience, Biology, Cognition, Magnetic resonance imaging, Histone deacetylase, Gene, Psychiatry, Histone, RadiologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
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1Total citation count in OpenAlex
- Citations by year (recent)
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2025: 1Per-year citation counts (last 5 years)
- References (count)
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38Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.histone | 20 |
| abstract_inverted_index.imaging | 79 |
| abstract_inverted_index.patient | 51 |
| abstract_inverted_index.reduced | 81 |
| abstract_inverted_index.ABSTRACT | 0 |
| abstract_inverted_index.children | 7 |
| abstract_inverted_index.cortical | 86, 152 |
| abstract_inverted_index.critical | 27, 126 |
| abstract_inverted_index.distinct | 117 |
| abstract_inverted_index.epilepsy | 150 |
| abstract_inverted_index.features | 115 |
| abstract_inverted_index.included | 116 |
| abstract_inverted_index.infancy. | 62 |
| abstract_inverted_index.magnetic | 77 |
| abstract_inverted_index.mutation | 101 |
| abstract_inverted_index.regions. | 92 |
| abstract_inverted_index.revealed | 80 |
| abstract_inverted_index.spectrum | 38, 139 |
| abstract_inverted_index.suggests | 145 |
| abstract_inverted_index.cognitive | 41, 134 |
| abstract_inverted_index.developed | 69 |
| abstract_inverted_index.diagnosed | 72 |
| abstract_inverted_index.encompass | 9 |
| abstract_inverted_index.epilepsy, | 70 |
| abstract_inverted_index.function, | 135 |
| abstract_inverted_index.pathways, | 30 |
| abstract_inverted_index.potential | 147 |
| abstract_inverted_index.premature | 110 |
| abstract_inverted_index.primarily | 88 |
| abstract_inverted_index.resonance | 78 |
| abstract_inverted_index.resulting | 104 |
| abstract_inverted_index.syndrome. | 75 |
| abstract_inverted_index.Additional | 113 |
| abstract_inverted_index.associated | 33, 140 |
| abstract_inverted_index.cognitive, | 15 |
| abstract_inverted_index.disorders, | 39 |
| abstract_inverted_index.frameshift | 107 |
| abstract_inverted_index.highlights | 124 |
| abstract_inverted_index.hypotonia, | 57 |
| abstract_inverted_index.identified | 95 |
| abstract_inverted_index.mutations, | 143 |
| abstract_inverted_index.phenotypic | 114, 138 |
| abstract_inverted_index.sequencing | 94 |
| abstract_inverted_index.Psychomotor | 1 |
| abstract_inverted_index.deacetylase | 21 |
| abstract_inverted_index.development | 2, 132 |
| abstract_inverted_index.psychomotor | 54, 131 |
| abstract_inverted_index.craniofacial | 118 |
| abstract_inverted_index.difficulties | 60 |
| abstract_inverted_index.impairments. | 18, 42 |
| abstract_inverted_index.Whole‐exome | 93 |
| abstract_inverted_index.abnormalities | 119 |
| abstract_inverted_index.developmental | 35, 55 |
| abstract_inverted_index.fronto‐basal | 91 |
| abstract_inverted_index.malformations, | 87 |
| abstract_inverted_index.malformations. | 153 |
| abstract_inverted_index.hypertrichosis. | 121 |
| abstract_inverted_index.Lennox–Gastaut | 74 |
| abstract_inverted_index.c.3136_3137delCA), | 103 |
| abstract_inverted_index.neurodevelopmental | 29 |
| abstract_inverted_index.(p.Gln1046AspfsTer29; | 102 |
| abstract_inverted_index.polymicrogyria‐like | 85 |
| cited_by_percentile_year.max | 95 |
| cited_by_percentile_year.min | 91 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 13 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.6800000071525574 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.78372311 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |