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Article: A New Case of Autosomal-Dominant

Colona, Vito Luigi / Bertini, Enrico / Digilio, Maria Cristina / D'Amico, Adele / Novelli, Antonio / Pro, Stefano / Pisaneschi, Elisa / Nicita, Francesco

Brain sciences

2023 Volume 13, Issue 11

Abstract: ... ...

Abstract	POLR3B
Language	English
Publishing date	2023-11-08
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2651993-8
ISSN	2076-3425
ISSN	2076-3425
DOI	10.3390/brainsci13111567
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Article ; Online: Atrioventricular canal defect is the classic congenital heart disease in Bardet-Biedl syndrome.

Pugnaloni, Flaminia / Versacci, Paolo / Marino, Bruno / Digilio, Maria Cristina

Annals of human genetics

2021 Volume 85, Issue 3-4, Page(s) 101–102

MeSH term(s)	Bardet-Biedl Syndrome/genetics ; Child ; Exome ; Heart Defects, Congenital/genetics ; Heart Septal Defects ; Humans ; Turkey
Language	English
Publishing date	2021-01-12
Publishing country	England
Document type	Letter ; Comment
ZDB-ID	333-5
ISSN	1469-1809 ; 0003-4800
ISSN (online)	1469-1809
ISSN	0003-4800
DOI	10.1111/ahg.12413
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Article: Case report: A new

Minotti, Chiara / Graziani, Ludovico / Sallicandro, Ester / Digilio, Maria Cristina / Falasca, Roberto / Alesi, Viola / Novelli, Giuseppe / Dentici, Maria Lisa / Loddo, Sara / Novelli, Antonio

Frontiers in genetics

2024 Volume 14, Page(s) 1315291

Abstract: Interstitial deletions involving 6q chromosomal region are rare. Less than 30 patients have been described to date, and fewer have been characterized by high-resolution techniques, such as chromosomal microarray. Deletions involving 6q21q22.1 region are ... ...

Abstract	Interstitial deletions involving 6q chromosomal region are rare. Less than 30 patients have been described to date, and fewer have been characterized by high-resolution techniques, such as chromosomal microarray. Deletions involving 6q21q22.1 region are associated with an extremely wide and heterogeneous clinical spectrum, thus genotype-phenotype correlation based on the size of the rearranged region and on the involved genes is complex, even among individuals with overlapping deletions. Here we describe the phenotypic and molecular characterization of a new 6q interstitial deletion in a girl with developmental delay, intellectual disability, cerebellar vermis hypoplasia, facial peculiar characteristics, ataxia and ocular abnormalities. Microarray analysis of the proposita revealed a 7.9 Mb interstitial
Language	English
Publishing date	2024-02-06
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2023.1315291
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Article ; Online: Anatomically corrected malposition of the great arteries (S,L,D) with mutation of Nodal gene.

Putotto, Carolina / Caruso, Elio / Marino, Bruno / Digilio, Maria Cristina / Novelli, Antonio / Agati, Salvatore

Cardiology in the young

2022 , Page(s) 1–3

Abstract: Anatomically corrected malposition of the great arteries is a rare CHD, involving alignment and position of the great arteries. We report an infant with situs solitus, atrioventricular discordance, and ventriculoarterial concordance with the aorta ... ...

Abstract	Anatomically corrected malposition of the great arteries is a rare CHD, involving alignment and position of the great arteries. We report an infant with situs solitus, atrioventricular discordance, and ventriculoarterial concordance with the aorta arising anteriorly and to the right of the pulmonary artery. A mutation of Nodal gene, implicated in the pathogenesis of human left-right patterning defects, was found.
Language	English
Publishing date	2022-05-20
Publishing country	England
Document type	Journal Article
ZDB-ID	1078466-4
ISSN	1467-1107 ; 1047-9511
ISSN (online)	1467-1107
ISSN	1047-9511
DOI	10.1017/S1047951122001585
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Article ; Online: Cardiovascular disease in Noonan syndrome.

Pierpont, Mary Ella / Digilio, Maria Cristina

Current opinion in pediatrics

2018 Volume 30, Issue 5, Page(s) 601–608

Abstract: Purpose of review: To provide information on the scope of cardiac disease in Noonan syndrome.: Recent findings: Noonan syndrome is a common autosomal dominant RASopathy disorder characterized by clinical findings of facial dysmorphism, congenital ... ...

Abstract	Purpose of review: To provide information on the scope of cardiac disease in Noonan syndrome. Recent findings: Noonan syndrome is a common autosomal dominant RASopathy disorder characterized by clinical findings of facial dysmorphism, congenital heart disease, and short stature. The degree of genetic heterogeneity has recently become evident in that Noonan syndrome is now known to be caused by mutations in a large variety of genes which produce dysregulation of the RAS-MAPK (mitogen-activated protein kinase) signaling pathway. The scope of cardiac disease in Noonan syndrome is quite variable depending on the gene mutation, with some mutations usually associated with a high incidence of congenital heart defects (PTPN11, KRAS, and others) while those with predominantly hypertrophic cardiomyopathy (HCM) have higher risk and morbidity profiles (RAF1, RIT1, and those associated with multiple lentigines). Summary: Cardiac disease in Noonan syndrome varies according to the type of gene mutation. The most common forms of cardiac disease include pulmonary stenosis, HCM, and atrial septal defect. HCM in general is associated with increased risk, mortality, and morbidity. New concepts for potential treatments are discussed.
MeSH term(s)	Cardiomyopathy, Hypertrophic/genetics ; Cardiomyopathy, Hypertrophic/physiopathology ; DNA Mutational Analysis ; Humans ; Mitogen-Activated Protein Kinases/genetics ; Mutation, Missense/genetics ; Noonan Syndrome/complications ; Noonan Syndrome/genetics ; Noonan Syndrome/physiopathology ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics ; Proto-Oncogene Proteins p21(ras)/genetics ; Signal Transduction/genetics ; Signal Transduction/physiology ; ras Proteins/genetics
Chemical Substances	KRAS protein, human ; Mitogen-Activated Protein Kinases (EC 2.7.11.24) ; PTPN11 protein, human (EC 3.1.3.48) ; Protein Tyrosine Phosphatase, Non-Receptor Type 11 (EC 3.1.3.48) ; Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2) ; ras Proteins (EC 3.6.5.2)
Language	English
Publishing date	2018-08-10
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1049374-8
ISSN	1531-698X ; 1040-8703
ISSN (online)	1531-698X
ISSN	1040-8703
DOI	10.1097/MOP.0000000000000669
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Article ; Online: Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.

Bensaid, Souad / Bendahmane, Malika / Loddo, Sara / Poke, Gemma / Januel, Louis / Nicolle, Romain / Malan, Valérie / Chatron, Nicolas / Ottombrino, Silvia / Dentici, Maria Lisa / Novelli, Antonio / Digilio, Maria Cristina / Sanlaville, Damien

American journal of medical genetics. Part A

2024 , Page(s) e63580

Abstract: Deletions of the long arm of chromosome 20 (20q) are rare, with only 16 reported patients displaying a proximal interstitial 20q deletion. A 1.62 Mb minimal critical region at 20q11.2, encompassing three genes GDF5, EPB41L1, and SAMHD1, is proposed to be ...

Abstract	Deletions of the long arm of chromosome 20 (20q) are rare, with only 16 reported patients displaying a proximal interstitial 20q deletion. A 1.62 Mb minimal critical region at 20q11.2, encompassing three genes GDF5, EPB41L1, and SAMHD1, is proposed to be responsible for this syndrome. The leading clinical features include growth retardation, intractable feeding difficulties with gastroesophageal reflux, hypotonia and psychomotor developmental delay. Common facial dysmorphisms including triangular face, hypertelorism, and hypoplastic alae nasi were additionally reported. Here, we present the clinical and molecular findings of five new patients with proximal interstitial 20q deletions. We analyzed the phenotype and molecular data of all previously reported patients with 20q11.2q12 microdeletions, along with our five new cases. Copy number variation analysis of patients in our cohort has enabled us to identify the second critical region in the 20q11.2q12 region and redefine the first region that is initially identified. The first critical region spans 359 kb at 20q11.2, containing six MIM genes, including two disease-causing genes, GDF5 and CEP250. The second critical region spans 706 kb at 20q12, encompassing four MIM genes, including two disease-causing genes, MAFB and TOP1. We propose GDF5 to be the primary candidate gene generating the phenotype of patients with 20q11.2 deletions. Moreover, we hypothesize TOP1 as a potential candidate gene for the second critical region at 20q12. Of note, we cannot exclude the possibility of a synergistic role of other genes involved in the deletion, including a contiguous gene deletion syndrome or position effect affecting both critical regions. Further studies focusing on patients with proximal 20q deletions are required to support our hypothesis.
Language	English
Publishing date	2024-03-21
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63580
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Article ; Online: Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome.

Montanaro, Federica Alice Maria / Alfieri, Paolo / Caciolo, Cristina / Cumbo, Francesca / Piga, Simone / Tartaglia, Marco / Licchelli, Serena / Digilio, Maria Cristina / Vicari, Stefano

American journal of medical genetics. Part C, Seminars in medical genetics

2022 Volume 190, Issue 4, Page(s) 510–519

Abstract: Noonan syndrome (NS) is a clinical variable multisystem disorder caused by mutations in genes encoding proteins involved in the RAS/mitogen-activated protein kinase signaling pathway. NS is characterized by a distinctive facies, short stature, and ... ...

Abstract	Noonan syndrome (NS) is a clinical variable multisystem disorder caused by mutations in genes encoding proteins involved in the RAS/mitogen-activated protein kinase signaling pathway. NS is characterized by a distinctive facies, short stature, and congenital heart defects. Psychomotor delay, learning difficulties, and social deficits are also common. Furthermore, behavioral and attention problems can be reckoned as a key symptom in NS, with functioning resembling the patterns observed in attention deficit hyperactivity disorder (ADHD). The complex behavioral phenotype has great impact on the quality of life and raises demanding management issues also for patients' families. Parent management training (PMT) is recommended as first-line treatment for ADHD; however, no study has been performed to test the efficacy of PMT in NS, thus far. The aim of this pilot study is the implementation and evaluation of a PMT dedicated to NS families. Parents of seven children with NS were recruited and underwent to a 10-session PMT. Three different questionnaires were administered to both parents: Conners Parent Rating Scales, Parenting Stress Index Short Form (PSI-SF), and Alabama Parenting Questionnaire (APQ). Our findings on this first small cohort of families indicate that positive perception and satisfaction about the child and the interaction with him increased in mothers after the intervention, as measured respectively by PSI-SF difficult child (DC) and PSI-SF parent-child dysfunctional interaction (PCDI), while mothers' level of stress decreased after the PMT, as indicated by PSI-SF total scores. Furthermore, APQ positive parenting, which measures behaviors of positive relationship with the child, increased in mothers after the intervention. Statistical analysis on fathers' questionnaires did not show significant differences after the PMT sessions. This pilot study suggests that PMT is a promising intervention for parents of NS children with behavioral and ADHD symptoms. Changes in mothers' attitudes and distress indicate that behaviorally oriented programs may help parents to manage with NS phenotype.
MeSH term(s)	Male ; Female ; Humans ; Pilot Projects ; Noonan Syndrome/genetics ; Noonan Syndrome/therapy ; Quality of Life ; Mothers/psychology ; Parenting/psychology ; Attention Deficit Disorder with Hyperactivity/genetics ; Attention Deficit Disorder with Hyperactivity/therapy ; Parents/psychology
Language	English
Publishing date	2022-12-09
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.32025
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Article: Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.

Diagnostics (Basel, Switzerland)

2024 Volume 14, Issue 6

Abstract: Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic ... ...

Abstract	Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic variants in the
Language	English
Publishing date	2024-03-11
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662336-5
ISSN	2075-4418
ISSN	2075-4418
DOI	10.3390/diagnostics14060594
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Article: Obsessive Compulsive "Paper Handling": A Potential Distinctive Behavior in Children and Adolescents with KBG Syndrome.

Demaria, Francesco / Alfieri, Paolo / Digilio, Maria Cristina / Pontillo, Maria / Di Vincenzo, Cristina / Montanaro, Federica Alice Maria / Ciullo, Valentina / Zampino, Giuseppe / Vicari, Stefano

Journal of clinical medicine

2022 Volume 11, Issue 16

Abstract: KBG syndrome (KBGS; OMIM #148050) is a rare disease characterized by short stature, facial dysmorphism, macrodontia of the upper central incisors, skeletal anomalies, and neurodevelopmental disorder/intellectual disability. It is caused by a heterozygous ...

Abstract	KBG syndrome (KBGS; OMIM #148050) is a rare disease characterized by short stature, facial dysmorphism, macrodontia of the upper central incisors, skeletal anomalies, and neurodevelopmental disorder/intellectual disability. It is caused by a heterozygous variant or 16q24.3 microdeletions of the ANKRD11 gene (OMIM #611192), which plays a primary role in neuronal development. KBGS traits are variable, and mild expressions of the phenotype may complicate diagnosis. The present work aims at improving the characterization of KBGS in order to facilitate its recognition. A psychopathological evaluation of 17 subjects affected by KBGS found that 10 patients exhibited peculiar behavior related to "paper handling". These children and adolescents performed repetitive activities with paper, reminiscent of the hoarding and ordering behaviors characteristic of obsessive compulsive disorder. Their activities were time consuming and carried out in solitary, and forced interruption could generate intense emotional reactions. Paper handling may thus be understood as a potential distinct KBGS symptom akin to an obsessive compulsive symptom. Further research is needed to verify this claim.
Language	English
Publishing date	2022-08-11
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm11164687
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Article ; Online: Epilepsy in KBG syndrome.

Auconi, Marina / Serino, Domenico / Digilio, Maria Cristina / Gnazzo, Maria / Conti, Marta / Vigevano, Federico / Fusco, Lucia

Developmental medicine and child neurology

2022 Volume 65, Issue 5, Page(s) 712–720

Abstract: Aim: To illustrate the epileptological and electroencephalographic (EEG) characteristics of a cohort of patients with KBG syndrome and epilepsy.: Method: Clinical history, age at epilepsy onset, seizure types, EEG findings, duration of epilepsy, and ... ...

Abstract	Aim: To illustrate the epileptological and electroencephalographic (EEG) characteristics of a cohort of patients with KBG syndrome and epilepsy. Method: Clinical history, age at epilepsy onset, seizure types, EEG findings, duration of epilepsy, and response to therapies were retrospectively reviewed in 11 patients (three females, eight males) with KBG syndrome. Results: All detected genetic mutations were pathogenic and affected the C-terminal region at exon 9 of ANKRD11. One patient had 16q24.3 microdeletion including the ANKRD11 gene. Mean age at onset was 67 months. Epilepsy type was focal in five patients and generalized in four. Two patients had developmental and epileptic encephalopathies. Seizure freedom was obtained after a period varying between 15 days and 6 years. Interpretation: In our patients, epilepsy appeared to respond well to treatment and, in some cases, to be self-limiting. The molecular characteristics of our patients' genetic abnormalities did not point towards any specific epilepsy hot spot. Epilepsy should be considered in the diagnostic work-up of patients with KBG syndrome. What this paper adds: Some of the epilepsy types of KBG syndrome appear to be self-remitting. The epilepsy phenotypes associated with KBG syndrome are quite variable.
MeSH term(s)	Male ; Female ; Humans ; Abnormalities, Multiple/diagnosis ; Intellectual Disability/diagnosis ; Bone Diseases, Developmental/diagnosis ; Bone Diseases, Developmental/genetics ; Tooth Abnormalities/diagnosis ; Tooth Abnormalities/genetics ; Facies ; Retrospective Studies ; Repressor Proteins/genetics ; Chromosome Deletion ; Epilepsy, Generalized ; Phenotype
Chemical Substances	Repressor Proteins
Language	English
Publishing date	2022-10-04
Publishing country	England
Document type	Case Reports
ZDB-ID	80369-8
ISSN	1469-8749 ; 0012-1622
ISSN (online)	1469-8749
ISSN	0012-1622
DOI	10.1111/dmcn.15428
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