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Article ; Online: Linking genetics to epigenetics: The role of folate and folate-related pathways in neurodevelopmental disorders.

Lintas, C

2018 Volume 95, Issue 2, Page(s) 241–252

Abstract: There is growing evidence that epigenetic dysregulation plays a role in neurodevelopmental disorders. In humans, folate is one of the main donors of the methyl group required for the synthesis of S-adenosylmethionine, which in turn is needed for DNA and ... ...

Abstract	There is growing evidence that epigenetic dysregulation plays a role in neurodevelopmental disorders. In humans, folate is one of the main donors of the methyl group required for the synthesis of S-adenosylmethionine, which in turn is needed for DNA and histone methylation as key neurodevelopment processes. Folate deficiency during pregnancy has been correlated with neural tube defects and with a higher incidence of neurocognitive and/or neurobehavioral deficits. A similar outcome may be exerted by gene polymorphisms in folate or folate-related pathways. This has been documented by numerous case/control association studies performed on neurodevelopmental disorders such as autism spectrum disorder and attention deficit hyperactivity disorder. In this regard, the folate cycle represents a "perfect model" of how genetics influences epigenetics. Gene variants in folate and folate-related pathways can be considered risk factors for neurodevelopmental disorders and should therefore be assessed by genetic testing in pregnant women. High-risk women should be considered for folate supplementation during pregnancy. Here, we review all published case/control association studies on gene polymorphisms in folate and folate-related pathways performed on neurodevelopmental disorders, provide an overview of neurodevelopment and DNA methylation changes occurring at this time, and describe the biological basis of neurodevelopmental disorders and recent evidence of their epigenetic dysregulation.
MeSH term(s)	Animals ; Biomarkers ; DNA Methylation ; Diet ; Epigenesis, Genetic ; Folic Acid/metabolism ; Gene Expression Regulation ; Genetic Predisposition to Disease ; Genetic Variation ; Humans ; Metabolic Networks and Pathways/genetics ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/metabolism ; Neurogenesis/genetics
Chemical Substances	Biomarkers ; Folic Acid (935E97BOY8)
Language	English
Publishing date	2018-09-03
Publishing country	Denmark
Document type	Journal Article ; Review
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.13421
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Article: Editorial: Epigenetics of Neurodevelopmental, Neuromuscular and Neurodegenerative Disorders.

Coppedè, Fabio / Cereda, Cristina / Lintas, Carla / Stoccoro, Andrea

Frontiers in molecular neuroscience

2022 Volume 15, Page(s) 948827

Language	English
Publishing date	2022-06-10
Publishing country	Switzerland
Document type	Editorial
ZDB-ID	2452967-9
ISSN	1662-5099
ISSN	1662-5099
DOI	10.3389/fnmol.2022.948827
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Article ; Online: Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability

Lintas, Carla / Facchiano, Angelo / Azzarà, Alessia / Cassano, Ilaria / Tabolacci, Claudio / Galasso, Cinzia / Gurrieri, Fiorella

Genes (Basel). 2023 June 27, v. 14, no. 7

2023

Abstract: ... _171825.2: c.874_876delCTT; p.Lys292del), which was fully correlated with her phenotype. This is the first ...

Abstract	Background: The use of NGS technology has rapidly increased during the last decade, and many new monogenic neurodevelopmental disorders have emerged. Pathogenic variants in the neuronal CAMK2A gene have been recently associated with “intellectual developmental disorder, autosomal dominant 53″ (OMIM#617798), a syndrome characterized by variable clinical manifestations including mild to severe intellectual disability, delayed psychomotor development, delayed or absent speech, delayed walking, seizures, dysmorphic features and behavioral psychiatric manifestations as autism spectrum disorders, aggressive behavior, and hyperactivity. CAMK2A (OMIM*114078) encodes for a subunit of the calcium/calmodulin-dependent serine/threonine kinase II (CaMKII), which is predominately expressed in the brain, where it plays critical roles in synaptic plasticity, learning, and memory as well as in neuronal migration. Methods and Results: We hereby describe a thirty-five-year-old woman affected by severe intellectual disability with epileptic encephalopathy. We performed exome sequencing and found a de novo heterozygous variant in the CAMK2A gene (NM_171825.2: c.874_876delCTT; p.Lys292del), which was fully correlated with her phenotype. This is the first report of an inframe single amino acid deletion in a patient affected by intellectual developmental disorder autosomal dominant 53. The variant is predicted to affect protein structure and function and interaction with other proteins and hits a crucial functional site. Discussion: We discuss our variant in relation to previously reported variants and with the objective of delineating possible genotype–phenotype correlations.
Keywords	aggression ; amino acid deletion ; autism ; brain ; calcium-calmodulin-dependent protein kinase ; encephalopathy ; genes ; genotype-phenotype correlation ; heterozygosity ; lysine ; memory ; neurons ; neuroplasticity ; patients ; phenotype ; protein structure ; psychomotor development ; serine ; speech ; threonine ; women
Language	English
Dates of publication	2023-0627
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14071353
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Article ; Online: Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability.

Lintas, Carla / Facchiano, Angelo / Azzarà, Alessia / Cassano, Ilaria / Tabolacci, Claudio / Galasso, Cinzia / Gurrieri, Fiorella

Genes

2023 Volume 14, Issue 7

Abstract: Background: The use of NGS technology has rapidly increased during the last decade, and many new monogenic neurodevelopmental disorders have emerged. Pathogenic variants in the neuronal : Methods and results: We hereby describe a thirty-five-year-old ...

Abstract	Background: The use of NGS technology has rapidly increased during the last decade, and many new monogenic neurodevelopmental disorders have emerged. Pathogenic variants in the neuronal Methods and results: We hereby describe a thirty-five-year-old woman affected by severe intellectual disability with epileptic encephalopathy. We performed exome sequencing and found a de novo heterozygous variant in the Discussion: We discuss our variant in relation to previously reported variants and with the objective of delineating possible genotype-phenotype correlations.
MeSH term(s)	Female ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Lysine ; Neurodevelopmental Disorders/genetics ; Protein Serine-Threonine Kinases ; Brain Diseases ; Calcium-Calmodulin-Dependent Protein Kinase Type 2/genetics
Chemical Substances	Lysine (K3Z4F929H6) ; Protein Serine-Threonine Kinases (EC 2.7.11.1) ; CAMK2A protein, human (EC 2.7.11.17) ; Calcium-Calmodulin-Dependent Protein Kinase Type 2 (EC 2.7.11.17)
Language	English
Publishing date	2023-06-27
Publishing country	Switzerland
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14071353
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Article ; Online: Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.

Lintas, C / Persico, A M

Clinical genetics

2017 Volume 94, Issue 3-4, Page(s) 283–295

Abstract: Kabuki syndrome (KS) is a rare genetic syndrome characterized by a typical facial gestalt, variable degrees of intellectual disability, organ malformations, postnatal growth retardation and skeletal abnormalities. So far, KMT2D or KDM6A mutation has been ...

Abstract	Kabuki syndrome (KS) is a rare genetic syndrome characterized by a typical facial gestalt, variable degrees of intellectual disability, organ malformations, postnatal growth retardation and skeletal abnormalities. So far, KMT2D or KDM6A mutation has been identified as the main cause of KS, accounting for 56%-75% and 3%-8% of cases, respectively. Patients without mutations in 1 of the 2 causative KS genes are often referred to as affected by Kabuki-like syndrome. Overall, they represent approximately 30% of KS cases, pointing toward substantial genetic heterogeneity for this condition. Here, we review all currently available literature describing KS-like phenotypes (or phenocopies) associated with genetic variants located in loci different from KMT2D and KDM6A . We also report on a new KS phenocopy harboring a 5 Mb de novo deletion in chr10p11.22-11.21. An enrichment analysis aimed at identifying functional Gene Ontology classes shared by the 2 known KS causative genes and by new candidate genes currently associated with KS-like phenotypes primarily converges upon abnormal chromatin remodeling and transcriptional dysregulation as pivotal to the pathophysiology of KS phenotypic hallmarks. The identification of mutations in genes belonging to the same functional pathways of KMT2D and KDM6A can help design molecular screenings targeted to KS-like phenotypes.
MeSH term(s)	Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/physiopathology ; Chromosomes, Human, Pair 11 ; Diagnosis, Differential ; Face/abnormalities ; Face/physiopathology ; Genetic Heterogeneity ; Genetic Predisposition to Disease ; Hematologic Diseases/diagnosis ; Hematologic Diseases/genetics ; Hematologic Diseases/physiopathology ; Humans ; Phenotype ; Vestibular Diseases/diagnosis ; Vestibular Diseases/genetics ; Vestibular Diseases/physiopathology
Language	English
Publishing date	2017-03-01
Publishing country	Denmark
Document type	Journal Article ; Review
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.12983
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Article: Genotype-Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results.

Lintas, Carla / Sacco, Roberto / Azzarà, Alessia / Cassano, Ilaria / Gurrieri, Fiorella

Journal of clinical medicine

2021 Volume 10, Issue 21

Abstract: ASD genetic diagnosis has dramatically improved due to NGS technologies, and many new causative genes have been discovered. Consequently, new ASD phenotypes have emerged. An extensive exome sequencing study carried out by the Autism Sequencing Consortium ...

Abstract	ASD genetic diagnosis has dramatically improved due to NGS technologies, and many new causative genes have been discovered. Consequently, new ASD phenotypes have emerged. An extensive exome sequencing study carried out by the Autism Sequencing Consortium (ASC) was published in February 2020. The study identified 102 genes which are de novo mutated in subjects affected by autism spectrum disorder (ASD) or similar neurodevelopmental disorders (NDDs). The majority of these genes was already known to be implicated in ASD or NDDs, whereas approximately 30 genes were considered "novel" as either they were not previously associated with ASD/NDDs or very little information about them was present in the literature. The aim of this work is to review the current literature since the publication of the ASC paper to see if new data mainly concerning genotype-phenotype correlations of the novel genes have been added to the existing one. We found new important clinical and molecular data for 6 of the 30 novel genes. Though the broad and overlapping neurodevelopmental phenotypes observed in most monogenic forms of NDDs make it difficult for the clinical geneticist to address gene-specific tests, knowledge of these new data can at least help to prioritize and interpret results of pangenomic tests to some extent. Indeed, for some of the new emerging genes analyzed in the present work, specific clinical features emerged that may help the clinical geneticist to make the final diagnosis by associating the genetic test results with the phenotype. The importance of this relatively new approach known as "reverse phenotyping" will be discussed.
Language	English
Publishing date	2021-10-29
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm10215060
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Article ; Online: Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with

Azzarà, Alessia / Cassano, Ilaria / Lintas, Carla / Pilato, Fabio / Capone, Fioravante / Di Lazzaro, Vincenzo / Gurrieri, Fiorella

Genes

2023 Volume 14, Issue 7

Abstract: ... a c.3521C>G missense heterozygous variant in ...

Abstract	Peripheral facial palsy rarely occurs as part of Melkersson-Rosenthal syndrome (MRS), which is characterized by the classical triad of tongue cheilitis, recurrent episodes of orofacial swelling, and palsy. MRS is a disorder with variable expressivity and clinical as well as genetic heterogeneity; however, the causative gene remains to be identified. Migraine is a common neurological disorder, presenting with or without aura, which may be associated with neurological symptoms. The classical example of monogenic migraine is familial hemiplegic migraine (FHM), which has phenotypic variability in carriers of variants in the same gene or even carriers of the same variant. We present a family in which two sisters displayed recurrent migraines, one of which presented recurrent facial palsy and had clinical diagnosis of MRS. We performed WES and Sanger sequencing for segregation analysis in the available family members. We identified a c.3521C>G missense heterozygous variant in
MeSH term(s)	Humans ; Melkersson-Rosenthal Syndrome/diagnosis ; Melkersson-Rosenthal Syndrome/genetics ; Melkersson-Rosenthal Syndrome/complications ; Facial Paralysis/complications ; Migraine Disorders/genetics ; Migraine Disorders/complications ; Mutation, Missense ; Phenotype ; NAV1.1 Voltage-Gated Sodium Channel/genetics
Chemical Substances	SCN1A protein, human ; NAV1.1 Voltage-Gated Sodium Channel
Language	English
Publishing date	2023-07-20
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14071482
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Article ; Online: A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing.

Azzarà, Alessia / Cassano, Ilaria / Lintas, Carla / Bernardini, Laura / Pilato, Fabio / Capone, Fioravante / Di Lazzaro, Vincenzo / Gurrieri, Fiorella

European journal of neurology

2023 Volume 31, Issue 1, Page(s) e16088

Abstract: ... A missense variant c.304G>A was found leading to the p.(Ala102Thr) substitution in the TRPM8 gene, previously ...

Abstract	Background: Facial palsy manifests as unilateral or bilateral weakness and inability to move some of the facial muscles. The aetiology may be different including idiopathic, trauma, infections or brain tumours or it can be associated with chronic neurological diseases. For instance, in recurrent migraine, an increased risk of idiopathic facial palsy (often unilateral) has been observed. Migraine is a neurovascular disorder characterized by mild to severe intensity of headaches, often associated with neuro-ophthalmological symptoms. Methods: A family is reported where five members were affected by facial palsy associated with other clinical features including migraine, diplopia, facial swelling, eye conjunctivitis following a vertical transmission. Whole exome sequencing was performed in three members (two affected and one healthy) in order to identify potential variants causative of their phenotype. Results: A missense variant c.304G>A was found leading to the p.(Ala102Thr) substitution in the TRPM8 gene, previously related to migraine by genome wide association studies. This variant was classified as deleterious by several predictor tools, and the mutant residue was predicted to alter the protein structure in terms of flexibility and interactions with the surrounding residues. Conclusion: These findings suggest that TRPM8 could be a new causative gene further linking migraine and recurrent facial palsy.
MeSH term(s)	Humans ; Facial Paralysis/genetics ; Exome Sequencing ; Genome-Wide Association Study ; Exome/genetics ; Migraine Disorders/genetics ; Pedigree
Language	English
Publishing date	2023-10-12
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1280785-0
ISSN	1468-1331 ; 1351-5101 ; 1471-0552
ISSN (online)	1468-1331
ISSN	1351-5101 ; 1471-0552
DOI	10.1111/ene.16088
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Article ; Online: Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 <i>locus</i> Associated with Variable Expressivity of Neuropsychiatric Disorders.

Lintas, Carla / Sacco, Roberto / Azzarà, Alessia / Cassano, Ilaria / Laino, Luigi / Grammatico, Paola / Gurrieri, Fiorella

Genes

2022 Volume 13, Issue 10

Abstract: The involvement of the Histaminergic System (HS) in neuropsychiatric disease is not well-documented, and few studies have described patients affected by different neuropsychiatric conditions harbouring disruptions in genes involved in the HS. In humans, ... ...

Abstract	The involvement of the Histaminergic System (HS) in neuropsychiatric disease is not well-documented, and few studies have described patients affected by different neuropsychiatric conditions harbouring disruptions in genes involved in the HS. In humans, histamine is synthetised from histidine by the histidine decarboxylase enzyme encoded by the HDC gene (OMIM142704). This is the sole enzyme in our organism able to synthetise histamine from histidine. Histamine is also contained in many different food types. We hereby describe a twenty-one-year-old female diagnosed with a borderline intellectual disability with autistic traits and other peculiar neuropsychological features carrying a 175-Kb interstitial deletion on chromosome 15q21.2. The deletion was inherited from the mother, who was affected by a severe anxiety disorder. The deleted region contains entirely the HDC* and the SLC27A2 genes and partially the ATP8B4 gene. The HDC gene has been previously associated with Tourette Syndrome (TS). Based on the functional role of the HDC, we propose this gene as the best candidate to explain many traits associated with the clinical phenotype of our patient and of her mother.
MeSH term(s)	Humans ; Female ; Young Adult ; Adult ; Histidine Decarboxylase/genetics ; Histamine ; Histidine ; Tourette Syndrome/genetics
Chemical Substances	Histidine Decarboxylase (EC 4.1.1.22) ; Histamine (820484N8I3) ; Histidine (4QD397987E)
Language	English
Publishing date	2022-09-20
Publishing country	Switzerland
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes13101685
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Article ; Online: Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders.

Lintas, Carla / Cassano, Ilaria / Azzarà, Alessia / Stigliano, Maria Grazia / Gregorj, Chiara / Sacco, Roberto / Stoccoro, Andrea / Coppedè, Fabio / Gurrieri, Fiorella

Genes

2023 Volume 14, Issue 3

Abstract: Neurodevelopmental Disorders (NDs) are a heterogeneous group of disorders and are considered multifactorial diseases with both genetic and environmental components. Epigenetic dysregulation driven by adverse environmental factors has recently been ... ...

Abstract	Neurodevelopmental Disorders (NDs) are a heterogeneous group of disorders and are considered multifactorial diseases with both genetic and environmental components. Epigenetic dysregulation driven by adverse environmental factors has recently been documented in neurodevelopmental disorders as the possible etiological agent for their onset. However, most studies have focused on the epigenomes of the probands rather than on a possible epigenetic dysregulation arising in their mothers and influencing neurodevelopment during pregnancy. The aim of this research was to analyze the methylation profile of four well-known genes involved in neurodevelopment (
MeSH term(s)	Child ; Female ; Pregnancy ; Humans ; Risk Factors ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/complications ; Mothers ; Attention Deficit Disorder with Hyperactivity/genetics ; Epigenesis, Genetic
Language	English
Publishing date	2023-02-25
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14030585
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