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Article ; Online: Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders

Di Stazio, Mariateresa / Zanus, Caterina / Faletra, Flavio / Pesaresi, Alessia / Ziccardi, Ilaria / Morgan, Anna / Girotto, Giorgia / Costa, Paola / Carrozzi, Marco / d’Adamo, Adamo P. / Musante, Luciana

Genes (Basel). 2023 Jan. 18, v. 14, no. 2

2023

Abstract: CSNK2B encodes for the regulatory subunit of the casein kinase II, a serine/threonine kinase that is highly expressed in the brain and implicated in development, neuritogenesis, synaptic transmission and plasticity. De novo variants in this gene have ... ...

Abstract	CSNK2B encodes for the regulatory subunit of the casein kinase II, a serine/threonine kinase that is highly expressed in the brain and implicated in development, neuritogenesis, synaptic transmission and plasticity. De novo variants in this gene have been identified as the cause of the Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) characterized by seizures and variably impaired intellectual development. More than sixty mutations have been described so far. However, data clarifying their functional impact and the possible pathomechanism are still scarce. Recently, a subset of CSNK2B missense variants affecting the Asp32 in the KEN box-like domain were proposed as the cause of a new intellectual disability-craniodigital syndrome (IDCS). In this study, we combined predictive functional and structural analysis and in vitro experiments to investigate the effect of two CSNK2B mutations, p.Leu39Arg and p.Met132LeufsTer110, identified by WES in two children with POBINDS. Our data prove that loss of the CK2beta protein, due to the instability of mutant CSNK2B mRNA and protein, resulting in a reduced amount of CK2 complex and affecting its kinase activity, may underlie the POBINDS phenotype. In addition, the deep reverse phenotyping of the patient carrying p.Leu39Arg, with an analysis of the available literature for individuals with either POBINDS or IDCS and a mutation in the KEN box-like motif, might suggest the existence of a continuous spectrum of CSNK2B-associated phenotypes rather than a sharp distinction between them.
Keywords	brain ; genes ; haploinsufficiency ; mutants ; non-specific serine/threonine protein kinase ; patients ; phenotype ; plasticity ; serine ; synaptic transmission ; threonine
Language	English
Dates of publication	2023-0118
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14020250
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique.

Di Stazio, Mariateresa / Foschi, Nicola / Athanasakis, Emmanouil / Gasparini, Paolo / d'Adamo, Adamo Pio

PloS one

2021 Volume 16, Issue 3, Page(s) e0247603

Abstract: The CRISPR/Cas9 bacterial system has proven to be an powerful tool for genetic manipulation in several organisms, but the efficiency of sequence replacement by homologous direct repair (HDR) is substantially lower than random indel creation. Many studies ...

Abstract	The CRISPR/Cas9 bacterial system has proven to be an powerful tool for genetic manipulation in several organisms, but the efficiency of sequence replacement by homologous direct repair (HDR) is substantially lower than random indel creation. Many studies focused on improving HDR efficiency using double sgRNA, cell synchronization cycle, and the delivery of single-stranded oligo DNA nucleotides (ssODN) with a rational design. In this study, we evaluate these three methods' synergistic effects to improve HDR efficiency. For our tests, we have chosen the TNFα gene (NM_000594) for its crucial role in various biological processes and diseases. For the first time, our results showed how the use of two sgRNA with asymmetric donor design and triple transfection events dramatically increase the HDR efficiency from an undetectable HDR event to 39% of HDR efficiency and provide a new strategy to facilitate CRISPR/Cas9-mediated human genome editing. Besides, we demonstrated that the TNFα locus could be edited with CRISPR/Cas9 methodology, an opportunity to safely correct, in the future, the specific mutations of each patient.
MeSH term(s)	CRISPR-Cas Systems ; DNA Breaks, Double-Stranded ; DNA End-Joining Repair/genetics ; DNA, Single-Stranded/genetics ; Gene Editing/methods ; Genome, Human ; HEK293 Cells ; Humans ; Mutation ; Nucleotides/genetics ; RNA, Guide, CRISPR-Cas Systems/genetics ; Recombinational DNA Repair/genetics ; Transfection ; Trinucleotide Repeats/genetics ; Tumor Necrosis Factor-alpha/genetics
Chemical Substances	DNA, Single-Stranded ; Nucleotides ; RNA, Guide, CRISPR-Cas Systems ; TNF protein, human ; Tumor Necrosis Factor-alpha
Language	English
Publishing date	2021-03-05
Publishing country	United States
Document type	Journal Article
ZDB-ID	2267670-3
ISSN	1932-6203 ; 1932-6203
ISSN (online)	1932-6203
ISSN	1932-6203
DOI	10.1371/journal.pone.0247603
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of

Di Stazio, Mariateresa / Zanus, Caterina / Faletra, Flavio / Pesaresi, Alessia / Ziccardi, Ilaria / Morgan, Anna / Girotto, Giorgia / Costa, Paola / Carrozzi, Marco / d'Adamo, Adamo P / Musante, Luciana

Genes

2023 Volume 14, Issue 2

Abstract: ... ...

Abstract	CSNK2B
MeSH term(s)	Humans ; Haploinsufficiency ; Intellectual Disability/genetics ; Mutation ; Brain/metabolism ; Phenotype ; Casein Kinase II/genetics
Chemical Substances	Casein Kinase II (EC 2.7.11.1)
Language	English
Publishing date	2023-01-18
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/genes14020250
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Article: Identification of a New Mutation in

Di Stazio, Mariateresa / Bigoni, Stefania / Iuso, Nicola / Vuch, Josef / Selvatici, Rita / Ulivi, Sheila / d'Adamo, Pio Adamo

Brain sciences

2021 Volume 11, Issue 8

Abstract: Background: Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disability, in which specific associated facial, hand, and skeletal abnormalities are diagnostic features.: Methods: In the present study, an unreported missense ... ...

Abstract	Background: Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disability, in which specific associated facial, hand, and skeletal abnormalities are diagnostic features. Methods: In the present study, an unreported missense genetic variant of the ribosomal S6 kinase 2 ( Results: Our study demonstrated that the two variants involving residue 189 significantly impaired its kinase activity. Conclusions: We detected a loss-of-function
Language	English
Publishing date	2021-08-22
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2651993-8
ISSN	2076-3425
ISSN	2076-3425
DOI	10.3390/brainsci11081105
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Article ; Online: Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases.

Callea, Michele / Bellacchio, Emanuele / Cammarata Scalisi, Francisco / El Feghaly, Jinia / El-Ghandour, Rabab K / Avendaño, Andrea / Yavuz, Yasemine / Diociaiuti, Andrea / Digilio, Maria C / DI Stazio, Mariateresa / Novelli, Antonio / Oranges, Teresa / Filippeschi, Cesare / Pisaneschi, Elisa / Jilani, Houweyda / Gigola, Francesca / Willoughby, Colin E / Morabito, Antonino

Italian journal of dermatology and venereology

2023 Volume 158, Issue 1, Page(s) 32–38

Abstract: Background: Ectodermal dysplasias (EDs) are a large and complex group of disorders affecting the ectoderm-derived organs; the clinical and genetic heterogeneity of these conditions renders an accurate diagnosis more challenging. The aim of this study is ...

Abstract	Background: Ectodermal dysplasias (EDs) are a large and complex group of disorders affecting the ectoderm-derived organs; the clinical and genetic heterogeneity of these conditions renders an accurate diagnosis more challenging. The aim of this study is to demonstrate the clinical utility of a targeted resequencing panel through enhancing the molecular and clinical diagnosis of EDs. Given the recent developments in gene and protein-based therapies for X-linked hypohidrotic ectodermal dysplasia, there is a re-emerging interest in identifying the genetic basis of EDs and the respective phenotypic presentations, in an aim to facilitate potential treatments for affected families. Methods: We assessed seventeen individuals, from three unrelated families, who presented with diverse phenotypes suggestive of ED. An extensive multidisciplinary clinical evaluation was performed followed by a targeted exome resequencing panel (including genes that are known to cause EDs). MiSeq Results: Three different previously reported hemizygous EDA mutations were found in the families. However, a complete genotype-phenotype correlation could not be established, neither in our patients nor in the previously reported patients. Conclusions: Targeted exome resequencing can provide a rapid and accurate diagnosis of EDs, while further contributing to the existing ED genetic data. Moreover, the identification of the disease-causing mutation in an affected family is crucial for proper genetic counseling and the establishment of a genotype-phenotype correlation which will subsequently provide the affected individuals with a more suitable treatment plan.
MeSH term(s)	Humans ; Ectodysplasins/genetics ; High-Throughput Nucleotide Sequencing ; Ectodermal Dysplasia/diagnosis ; Ectodermal Dysplasia/genetics ; Ectodermal Dysplasia 1, Anhidrotic/diagnosis ; Ectodermal Dysplasia 1, Anhidrotic/genetics ; Mutation ; Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Chemical Substances	Ectodysplasins
Language	English
Publishing date	2023-03-20
Publishing country	Italy
Document type	Journal Article
ZDB-ID	3065415-4
ISSN	2784-8450
ISSN (online)	2784-8450
DOI	10.23736/S2784-8671.23.07540-0
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Article ; Online: What Is the Exact Contribution of

Bianco, Anna Monica / Ragusa, Giulia / Di Carlo, Valentina / Faletra, Flavio / Di Stazio, Mariateresa / Racano, Costantina / Trisolino, Giovanni / Cappellani, Stefania / De Pellegrin, Maurizio / d'Addetta, Ignazio / Carluccio, Giuseppe / Monforte, Sergio / Andreacchio, Antonio / Dibello, Daniela / d'Adamo, Adamo P

Genes

2022 Volume 13, Issue 11

Abstract: Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be secondary or associated with complex syndromes. To date, two genes that appear to play an important ... ...

Abstract	Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be secondary or associated with complex syndromes. To date, two genes that appear to play an important role are
MeSH term(s)	Child ; Humans ; Clubfoot/genetics ; DNA Copy Number Variations/genetics ; Mutation ; T-Box Domain Proteins/genetics
Chemical Substances	T-Box Domain Proteins ; TBX4 protein, human ; homeobox protein PITX1
Language	English
Publishing date	2022-10-27
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/genes13111958
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Article: Next Generation Sequencing and Animal Models Reveal

Girotto, Giorgia / Morgan, Anna / Krishnamoorthy, Navaneethakrishnan / Cocca, Massimiliano / Brumat, Marco / Bassani, Sissy / La Bianca, Martina / Di Stazio, Mariateresa / Gasparini, Paolo

Frontiers in genetics

2019 Volume 10, Page(s) 142

Abstract: Age-related hearing loss (ARHL) is the most common sensory impairment in the elderly affecting millions of people worldwide. To shed light on the genetics of ARHL, a large cohort of 464 Italian patients has been deeply characterized at clinical and ... ...

Abstract	Age-related hearing loss (ARHL) is the most common sensory impairment in the elderly affecting millions of people worldwide. To shed light on the genetics of ARHL, a large cohort of 464 Italian patients has been deeply characterized at clinical and molecular level. In particular, 46 candidate genes, selected on the basis of genome-wide association studies (GWAS), animal models and literature updates, were analyzed by targeted re-sequencing. After filtering and prioritization steps,
Language	English
Publishing date	2019-02-26
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2019.00142
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Article ; Online: Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.

Morgan, Anna / Vuckovic, Dragana / Krishnamoorthy, Navaneethakrishnan / Rubinato, Elisa / Ambrosetti, Umberto / Castorina, Pierangela / Franzè, Annamaria / Vozzi, Diego / La Bianca, Martina / Cappellani, Stefania / Di Stazio, Mariateresa / Gasparini, Paolo / Girotto, Giorgia

European journal of human genetics : EJHG

2018 Volume 27, Issue 1, Page(s) 70–79

Abstract: Hereditary hearing loss (HHL) and age-related hearing loss (ARHL) are two major sensory diseases affecting millions of people worldwide. Despite many efforts, additional HHL-genes and ARHL genetic risk factors still need to be identified. To fill this ... ...

Abstract	Hereditary hearing loss (HHL) and age-related hearing loss (ARHL) are two major sensory diseases affecting millions of people worldwide. Despite many efforts, additional HHL-genes and ARHL genetic risk factors still need to be identified. To fill this gap a large genomic screening based on next-generation sequencing technologies was performed. Whole exome sequencing in a 3-generation Italian HHL family and targeted re-sequencing in 464 ARHL patients were performed. We detected three variants in SPATC1L: a nonsense allele in an HHL family and a frameshift insertion and a missense variation in two unrelated ARHL patients. In silico molecular modelling of all variants suggested a significant impact on the structural stability of the protein itself, likely leading to deleterious effects and resulting in truncated isoforms. After demonstrating Spatc1l expression in mice inner ear, in vitro functional experiments were performed confirming the results of the molecular modelling studies. Finally, a candidate-gene population-based statistical study in cohorts from Caucasus and Central Asia revealed a statistically significant association of SPATC1L with normal hearing function at low and medium hearing frequencies. Overall, the amount of different genetic data presented here (variants with early-onset and late-onset hearing loss in addition to genetic association with normal hearing function), together with relevant functional evidence, likely suggest a role of SPATC1L in hearing function and loss.
MeSH term(s)	Animals ; Codon, Nonsense ; Cytoskeletal Proteins/chemistry ; Cytoskeletal Proteins/genetics ; Cytoskeletal Proteins/metabolism ; Female ; HEK293 Cells ; Hearing Loss/genetics ; Humans ; Male ; Mice ; Middle Aged ; Mutation, Missense ; Protein Stability
Chemical Substances	Codon, Nonsense ; Cytoskeletal Proteins ; SPATC1L protein, human
Language	English
Publishing date	2018-09-03
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-018-0229-9
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: TBL1Y: a new gene involved in syndromic hearing loss.

Di Stazio, Mariateresa / Collesi, Chiara / Vozzi, Diego / Liu, Wei / Myers, Mike / Morgan, Anna / D Adamo, Pio Adamo / Girotto, Giorgia / Rubinato, Elisa / Giacca, Mauro / Gasparini, Paolo

European journal of human genetics : EJHG

2018 Volume 27, Issue 3, Page(s) 466–474

Abstract: Hereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms. Here, we described an Italian pedigree affected by HHL but also prostate hyperplasia and increased ratio of the free/total PSA ... ...

Abstract	Hereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms. Here, we described an Italian pedigree affected by HHL but also prostate hyperplasia and increased ratio of the free/total PSA levels, with the unusual and extremely rare Y-linked pattern of inheritance. Using exome sequencing we found a missense variant (r.206A>T leading to p.Asp69Val) in the TBL1Y gene. TBL1Y is homologous of TBL1X, whose partial deletion has described to be involved in X-linked hearing loss. Here, we demonstrate that it has a restricted expression in adult human cochlea and prostate and the variant identified induces a lower protein stability caused by misfolded mutated protein that impairs its cellular function. These findings indicate that TBL1Y could be considered a novel candidate for HHL.
MeSH term(s)	Adolescent ; Adult ; Aged ; Aged, 80 and over ; Cochlea/metabolism ; Female ; Genetic Diseases, Y-Linked/genetics ; Genetic Diseases, Y-Linked/pathology ; Hearing Loss/genetics ; Hearing Loss/pathology ; Humans ; Male ; Middle Aged ; Mutation, Missense ; Pedigree ; Prostate/metabolism ; Prostatic Hyperplasia/genetics ; Prostatic Hyperplasia/pathology ; Protein Stability ; Syndrome ; Transducin/genetics ; Transducin/metabolism
Chemical Substances	TBL1Y protein, human ; Transducin (EC 3.6.5.1)
Language	English
Publishing date	2018-10-19
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-018-0282-4
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Article: A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up.

Callea, Michele / Bellacchio, Emanuele / Di Stazio, Mariateresa / Fattori, Fabiana / Bertini, Enrico / Yavuz, Izzet / Clarich, Gabriella / Gunay, Ayse

Oral health and dental management

2014 Volume 13, Issue 2, Page(s) 548–551

Abstract: This report deals with a case of Cleidocranial Dysplasia (CCD) associated to a rare mutation of the RUNX2 gene and a peculiar dental phenotype, namely no supernumerary teeth. The aim consists in evaluating the long-term follow-up after treatment and ... ...

Abstract	This report deals with a case of Cleidocranial Dysplasia (CCD) associated to a rare mutation of the RUNX2 gene and a peculiar dental phenotype, namely no supernumerary teeth. The aim consists in evaluating the long-term follow-up after treatment and discussing the pathogenetic mechanism of the mutation. We have carried out a clinical evaluation after treatment and attempted to analyze the potential pathogenetic effect of the mutation, based upon the available experimental structure of RUNX family domain and the highly conserved homology of RUNX1-3. Clinically the treatment has led to tooth development in crowns an roots, correction of cross-bite and eruption of the central maxillary incisor. The structural analysis has pointed out impairment in the DNA binding capability of the mutant protein. The described mutation, c.391C>T (p.R131C) appears to influence both structure and function of the protein by hampering the interaction of RUNX2 with DNA. The impaired function could explain the peculiar reported CCD phenotype. The dental condition of our patient has largely improved after treatment.
Language	English
Publishing date	2014-06
Publishing country	United States
Document type	Journal Article
ZDB-ID	2677445-8
ISSN	2247-2452
ISSN	2247-2452
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