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Article ; Online: Relevance of Fetal Brain Magnetic Resonance Imaging Compared to Ultrasound for Detecting Cerebral Anomalies in Fetuses with Cleft Lip and/or Palate: A Cohort Study.

Eydoux, Raphaëlle / Lesieur, Emmanuelle / Blanc, Julie / Girard, Nadine / D'ercole, Claude / Sigaudy, Sabine / Chaumoitre, Kathia / Bretelle, Florence

Fetal diagnosis and therapy

2023 Volume 50, Issue 1, Page(s) 37–46

Abstract: Introduction: Relevance of fetal brain magnetic resonance imaging (MRI) in cases of cleft lip and/or palate (CL/P) is still discussed to date. The aim of our study was to review the contribution of fetal brain MRI for detecting cerebral anomalies in ... ...

Abstract	Introduction: Relevance of fetal brain magnetic resonance imaging (MRI) in cases of cleft lip and/or palate (CL/P) is still discussed to date. The aim of our study was to review the contribution of fetal brain MRI for detecting cerebral anomalies in cases of CL/P comparing antenatal data with neonatal outcomes. Methods: A retrospective multicenter study was conducted from January 2010 to October 2020 in two multidisciplinary prenatal diagnosis centers among women with a fetal ultrasound (US) diagnosis of CL/P. Prenatal imaging and genetic analysis data were collected, as well as postnatal data, including outcomes of children who had an abnormal prenatal MRI. Results: Among the 202 fetuses with a US diagnosis of CL/P, 96 underwent US and fetal brain MRI. 19 brain MRIs were found to be abnormal: 14 (73.7%) involved CL/P associated with other US abnormalities and five (26.3%) involved isolated clefts, of which four were cleft lip and alveolus and secondary palate (CLP). MRI identified severe abnormalities that changed the prognoses of 3 cases of clefts associated with other US abnormalities. In contrast, MRI found only minor abnormalities for the five isolated clefts, with no postnatal disorders found in these children. Conclusion: Fetal brain MRI should be proposed in cases of clefts associated with other anomalies or if US examination is limited by local conditions. MRI could also be discussed in cases of isolated CLP but should not be performed in cases of isolated cleft lip.
MeSH term(s)	Infant, Newborn ; Child ; Pregnancy ; Female ; Humans ; Cleft Lip/diagnostic imaging ; Cleft Palate/diagnostic imaging ; Cohort Studies ; Ultrasonography, Prenatal ; Fetus ; Retrospective Studies ; Nervous System Malformations ; Brain/diagnostic imaging ; Brain/abnormalities ; Magnetic Resonance Imaging/methods
Language	English
Publishing date	2023-01-09
Publishing country	Switzerland
Document type	Multicenter Study ; Journal Article
ZDB-ID	1066460-9
ISSN	1421-9964 ; 1015-3837
ISSN (online)	1421-9964
ISSN	1015-3837
DOI	10.1159/000528906
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Zs.A 2146: Show issues

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Article: Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49

Abaji, Mario / Gorokhova, Svetlana / Da Silva, Nathalie / Busa, Tiffany / Grelet, Maude / Missirian, Chantal / Sigaudy, Sabine / Philip, Nicole / Leturcq, France / Lévy, Nicolas / Krahn, Martin / Bartoli, Marc

Genes. 2022 July 19, v. 13, no. 7

2022

Abstract: Exon skipping is a promising therapeutic approach. One important condition for this approach is that the exon-skipped form of the gene can at least partially perform the required function and lead to improvement of the phenotype. It is therefore critical ...

Abstract	Exon skipping is a promising therapeutic approach. One important condition for this approach is that the exon-skipped form of the gene can at least partially perform the required function and lead to improvement of the phenotype. It is therefore critical to identify the exons that can be skipped without a significant deleterious effect on the protein function. Pathogenic variants in the DMD gene are responsible for Duchenne muscular dystrophy (DMD). We report for the first time a deletion of the in-frame exon 49 associated with a strikingly normal muscular phenotype. Based on this observation, and on previously known therapeutic approaches using exon skipping in DMD for other single exons, we aimed to extend the clinical use of exon skipping for patients carrying truncating mutations in exon 49. We first determined the precise genomic position of the exon 49 deletion in our patients. We then demonstrated the feasibility of skipping exon 49 using an in vitro AON (antisense oligonucleotide) approach in human myotubes carrying a truncating pathogenic variant as well as in healthy ones. This work is a proof of concept aiming to expand exon-skipping approaches for DMD exon 49.
Keywords	exons ; genomics ; humans ; muscular dystrophy ; myotubes ; oligonucleotides ; phenotype ; therapeutics
Language	English
Dates of publication	2022-0719
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes13071277
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.

Abaji, Mario / Mignon-Ravix, Cécile / Gorokhova, Svetlana / Cacciagli, Pierre / Mortreux, Jérémie / Molinari, Florence / Chabrol, Brigitte / Sigaudy, Sabine / Villard, Laurent / Riccardi, Florence

Journal of medical genetics

2023 Volume 60, Issue 10, Page(s) 1021–1025

Abstract: The TRAPP (TRAfficking Protein Particle) complexes are evolutionarily conserved tethering factors involved in the intracellular transport of vesicles for secretion and autophagy processes. Pathogenic variants in 8 genes (of 14) encoding TRAPP proteins ... ...

Abstract	The TRAPP (TRAfficking Protein Particle) complexes are evolutionarily conserved tethering factors involved in the intracellular transport of vesicles for secretion and autophagy processes. Pathogenic variants in 8 genes (of 14) encoding TRAPP proteins are involved in ultra-rare human diseases, called TRAPPopathies. Seven of them are autosomal recessive neurodevelopmental disorders with overlapping phenotypes. Since 2018, two homozygous missense variants in
MeSH term(s)	Humans ; Homozygote ; Mutation, Missense ; Neurodevelopmental Disorders/genetics ; Phenotype ; Seizures
Chemical Substances	TRAPPC2 protein, human
Language	English
Publishing date	2023-02-27
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmg-2022-108677
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Zs.A 177: Show issues

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Article ; Online: The role of pediatric oncologist in prenatal diagnosis: A 10-year retrospective study at Assistance Publique Hôpitaux de Marseille (AP-HM).

Min, Victoria / Coze, Stephanie / D'Ercole, Claude / Panait, Nicoleta / Sigaudy, Sabine / Aschero, Audrey / Zattara, Helene / Bretelle, Florence / Revon-Riviere, Gabriel / Coze, Carole

Pediatric hematology and oncology

2023 Volume 41, Issue 1, Page(s) 30–40

Abstract: Solid tumors or predisposition syndromes are increasingly suspected before birth. However optimal management and outcomes remain unclear. We have performed a ten-year retrospective study of oncologic indications of prenatal diagnosis in public hospitals ... ...

Abstract	Solid tumors or predisposition syndromes are increasingly suspected before birth. However optimal management and outcomes remain unclear. We have performed a ten-year retrospective study of oncologic indications of prenatal diagnosis in public hospitals in Marseille. Data were obtained from prenatal diagnosis center and hospital imaging databases and pediatric oncology department files. Fifty-one cases were identified, 40 with mass: adrenal 17, sacrococcygeal 9, cardiac 7, abdominal 4, ovarian 1, cervical 2; 8 with developmental abnormalities (omphalocele 4, macroglossia 4), 3 WITH familial predisposition syndromes (familial rhabdoid 2, Li-Fraumeni 1). Median detection time was 30 week. Termination of pregnancy was decided for 9 fetuses (4 cardiac lesions and suspected tuberous sclerosis, 2 sacrococcygeal tumors, 1 Beckwith-Wiedemann Syndrome, 2
MeSH term(s)	Pregnancy ; Female ; Child ; Infant, Newborn ; Humans ; Retrospective Studies ; Ultrasonography, Prenatal ; Premature Birth ; Neuroblastoma ; Oncologists ; Prenatal Diagnosis
Language	English
Publishing date	2023-08-21
Publishing country	England
Document type	Journal Article
ZDB-ID	632914-7
ISSN	1521-0669 ; 0888-0018
ISSN (online)	1521-0669
ISSN	0888-0018
DOI	10.1080/08880018.2023.2245853
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Zs.A 1956: Show issues

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Article ; Online: Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.

Khosrowabadi, Elham / Mignon-Ravix, Cécile / Riccardi, Florence / Cacciagli, Pierre / Desnous, Béatrice / Sigaudy, Sabine / Milh, Mathieu / Villard, Laurent / Kjellén, Lena / Molinari, Florence

Human molecular genetics

2023 Volume 33, Issue 6, Page(s) 520–529

Abstract: Intellectual Disability (ID) is the major cause of handicap, affecting nearly 3% of the general population, and is highly genetically heterogenous with more than a thousand genes involved. Exome sequencing performed in two independent families identified ...

Abstract	Intellectual Disability (ID) is the major cause of handicap, affecting nearly 3% of the general population, and is highly genetically heterogenous with more than a thousand genes involved. Exome sequencing performed in two independent families identified the same missense variant, p.(Gly611Ser), in the NDST1 (N-deacetylase/N-sulfotransferase member 1) gene. This variant had been previously found in ID patients of two other families but has never been functionally characterized. The NDST1 gene encodes a bifunctional enzyme that catalyzes both N-deacetylation and N-sulfation of N-acetyl-glucosamine residues during heparan sulfate (HS) biosynthesis. This step is essential because it influences the downstream enzymatic modifications and thereby determines the overall structure and sulfation degree of the HS polysaccharide chain. To discriminate between a rare polymorphism and a pathogenic variant, we compared the enzymatic properties of wild-type and mutant NDST1 proteins. We found that the p.(Gly611Ser) variant results in a complete loss of N-sulfotransferase activity while the N-deacetylase activity is retained. NDST1 shows the highest and the most homogeneous expression in the human cerebral structures compared to the other members of the NDST gene family. These results indicate that a loss of NDST1 N-sulfation activity is associated with impaired cognitive functions.
MeSH term(s)	Humans ; Intellectual Disability/genetics ; Acetylglucosamine ; Cognition ; Inheritance Patterns ; Mutant Proteins ; Sulfotransferases/genetics
Chemical Substances	Acetylglucosamine (V956696549) ; Mutant Proteins ; Sulfotransferases (EC 2.8.2.-)
Language	English
Publishing date	2023-12-19
Publishing country	England
Document type	Journal Article
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddad203
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Zs.A 3469: Show issues

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Article ; Online: The complementary role of imaging modalities in Binder phenotype. Can prognostic factors of neonatal respiratory distress be found?

Bosselut, Hortense / Panuel, Michel / Sigaudy, Sabine / Gorincour, Guillaume / Chaumoitre, Kathia / Bretelle, Florence

Prenatal diagnosis

2019 Volume 39, Issue 7, Page(s) 549–562

Abstract: Objective: To evaluate the complementarity between prenatal ultrasound, computed tomography, and MRI scans for fetuses with Binder phenotype.: Methods: We carried out a retrospective study from January 1, 2009, to June 30, 2018, of fetuses with ... ...

Abstract	Objective: To evaluate the complementarity between prenatal ultrasound, computed tomography, and MRI scans for fetuses with Binder phenotype. Methods: We carried out a retrospective study from January 1, 2009, to June 30, 2018, of fetuses with Binder phenotype. Prenatal ultrasound (US) data were collected. A systematic survey of the entire skeleton was performed to look for associated abnormalities such as calcifications, brachytelephalangy, and spinal stenosis. Parents were systematically offered fetal skeletal computed tomography (CT). Results: Thirteen cases were included. Two cases of perinatal respiratory distress (18%) were observed. Chondrodysplasia punctata was diagnosed from the presence of calcifications, especially of the proximal femoral epiphyses and tarsal bones, in five cases (38%) by US and in 10 cases (83%) by CT. Calcifications of the hyoid bone were detected by CT in three cases (25%) one of which had respiratory distress. Polyhydramnios was associated with the Binder phenotype in four cases (30%) one of which had respiratory distress. One single fetus had combined polyhydramnios and laryngeal calcifications, and he suffered from perinatal respiratory distress. Conclusion: An antenatal diagnosis of Binder phenotype is often associated with chondrodysplasia punctata. We recommend the use of fetal CT as a complement to US in this condition.
MeSH term(s)	Adult ; Female ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Maxillofacial Abnormalities/complications ; Maxillofacial Abnormalities/diagnosis ; Middle Aged ; Multimodal Imaging/methods ; Phenotype ; Predictive Value of Tests ; Pregnancy ; Prenatal Diagnosis/methods ; Prognosis ; Respiratory Distress Syndrome, Newborn/diagnosis ; Respiratory Distress Syndrome, Newborn/etiology ; Retrospective Studies ; Risk Factors ; Tomography, X-Ray Computed ; Ultrasonography, Prenatal
Language	English
Publishing date	2019-05-10
Publishing country	England
Document type	Journal Article
ZDB-ID	82031-3
ISSN	1097-0223 ; 0197-3851
ISSN (online)	1097-0223
ISSN	0197-3851
DOI	10.1002/pd.5469
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Zs.A 1625: Show issues

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Article ; Online: SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation.

Grelet, Maude / Mortreux, Jérémie / Alazard, Emilie / Sigaudy, Sabine / Philip, Nicole / Missirian, Chantal

Clinical dysmorphology

2019 Volume 28, Issue 4, Page(s) 205–210

Abstract: Gonadal mosaicism has been reported in a variety of dominant or X-linked conditions and should be considered in all cases of apparent de-novo variation. Recently, some cases of supposed parental germline mosaicism have been shown to result from low-level ...

Abstract	Gonadal mosaicism has been reported in a variety of dominant or X-linked conditions and should be considered in all cases of apparent de-novo variation. Recently, some cases of supposed parental germline mosaicism have been shown to result from low-level somatic mosaicism. In most of the cases, mosaicism has been reported for pathogenic single nucleotide variants with only a few cases of copy number variation mosaicism described so far. Herein, we present the first case of parental somatic and gonadal copy number variation mosaicism in the SATB2 gene. We report three brothers presenting with the SATB2-associated syndrome. They all carry the same 121-kb heterozygous intragenic deletion of SATB2. Parental somatic mosaicism was detected by array-comparative genomic hybridization on a maternal blood sample and confirmed by Fluorescence in situ hybridization analysis on blood and buccal cells. This clinical report highlights the importance of investigating for parental somatic mosaicism to estimate the proper recurrence risk for subsequent pregnancy.
MeSH term(s)	Comparative Genomic Hybridization ; DNA Copy Number Variations ; Facies ; Female ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Matrix Attachment Region Binding Proteins/genetics ; Mosaicism ; Pedigree ; Phenotype ; Real-Time Polymerase Chain Reaction ; Syndrome ; Transcription Factors/genetics
Chemical Substances	Matrix Attachment Region Binding Proteins ; SATB2 protein, human ; Transcription Factors
Language	English
Publishing date	2019-08-19
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1121482-x
ISSN	1473-5717 ; 0962-8827
ISSN (online)	1473-5717
ISSN	0962-8827
DOI	10.1097/MCD.0000000000000293
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Zs.A 3528: Show issues

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Article ; Online: Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.

Genes

2022 Volume 13, Issue 7

Abstract	Exon skipping is a promising therapeutic approach. One important condition for this approach is that the exon-skipped form of the gene can at least partially perform the required function and lead to improvement of the phenotype. It is therefore critical to identify the exons that can be skipped without a significant deleterious effect on the protein function. Pathogenic variants in the DMD gene are responsible for Duchenne muscular dystrophy (DMD). We report for the first time a deletion of the in-frame exon 49 associated with a strikingly normal muscular phenotype. Based on this observation, and on previously known therapeutic approaches using exon skipping in DMD for other single exons, we aimed to extend the clinical use of exon skipping for patients carrying truncating mutations in exon 49. We first determined the precise genomic position of the exon 49 deletion in our patients. We then demonstrated the feasibility of skipping exon 49 using an in vitro AON (antisense oligonucleotide) approach in human myotubes carrying a truncating pathogenic variant as well as in healthy ones. This work is a proof of concept aiming to expand exon-skipping approaches for DMD exon 49.
MeSH term(s)	Dystrophin/genetics ; Exons/genetics ; Humans ; Muscle Fibers, Skeletal/pathology ; Muscular Dystrophy, Duchenne/genetics ; Muscular Dystrophy, Duchenne/pathology ; Muscular Dystrophy, Duchenne/therapy ; Oligonucleotides, Antisense/genetics ; Oligonucleotides, Antisense/therapeutic use
Chemical Substances	Dystrophin ; Oligonucleotides, Antisense
Language	English
Publishing date	2022-07-19
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/genes13071277
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Real-world evidence in achondroplasia: considerations for a standardized data set.

Alanay, Yasemin / Mohnike, Klaus / Nilsson, Ola / Alves, Inês / AlSayed, Moeenaldeen / Appelman-Dijkstra, Natasha M / Baujat, Genevieve / Ben-Omran, Tawfeg / Breyer, Sandra / Cormier-Daire, Valerie / Gregersen, Pernille Axél / Guillén-Navarro, Encarna / Högler, Wolfgang / Maghnie, Mohamad / Mukherjee, Swati / Cohen, Shelda / Pimenta, Jeanne / Selicorni, Angelo / Semler, J Oliver /

Sigaudy, Sabine / Popkov, Dmitry / Sabir, Ian / Noval, Susana / Sessa, Marco / Irving, Melita

Orphanet journal of rare diseases

2023 Volume 18, Issue 1, Page(s) 166

Abstract: Background: Collection of real-world evidence (RWE) is important in achondroplasia. Development of a prospective, shared, international resource that follows the principles of findability, accessibility, interoperability, and reuse of digital assets, ... ...

Abstract	Background: Collection of real-world evidence (RWE) is important in achondroplasia. Development of a prospective, shared, international resource that follows the principles of findability, accessibility, interoperability, and reuse of digital assets, and that captures long-term, high-quality data, would improve understanding of the natural history of achondroplasia, quality of life, and related outcomes. Methods: The Europe, Middle East, and Africa (EMEA) Achondroplasia Steering Committee comprises a multidisciplinary team of 17 clinical experts and 3 advocacy organization representatives. The committee undertook an exercise to identify essential data elements for a standardized prospective registry to study the natural history of achondroplasia and related outcomes. Results: A range of RWE on achondroplasia is being collected at EMEA centres. Whereas commonalities exist, the data elements, methods used to collect and store them, and frequency of collection vary. The topics considered most important for collection were auxological measures, sleep studies, quality of life, and neurological manifestations. Data considered essential for a prospective registry were grouped into six categories: demographics; diagnosis and patient measurements; medical issues; investigations and surgical events; medications; and outcomes possibly associated with achondroplasia treatments. Conclusions: Long-term, high-quality data are needed for this rare, multifaceted condition. Establishing registries that collect predefined data elements across age spans will provide contemporaneous prospective and longitudinal information and will be useful to improve clinical decision-making and management. It should be feasible to collect a minimum dataset with the flexibility to include country-specific criteria and pool data across countries to examine clinical outcomes associated with achondroplasia and different therapeutic approaches.
MeSH term(s)	Humans ; Quality of Life ; Europe ; Registries ; Achondroplasia/epidemiology
Language	English
Publishing date	2023-06-26
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-023-02755-w
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Article ; Online: Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al.

Riccardi, Florence / Astier, Alexandre / Grisval, Margot / Maillard, Arnaud / Michaud, Vincent / Badens, Catherine / Gordon, Christopher T / Trimouille, Aurélien / Faivre, Laurence / Amiel, Jeanne / Sigaudy, Sabine / Gorokhova, Svetlana

Genetics in medicine : official journal of the American College of Medical Genetics

2021 Volume 23, Issue 10, Page(s) 2003–2004

MeSH term(s)	Female ; Genes, X-Linked ; Humans ; Mediator Complex/genetics ; Neurodevelopmental Disorders/genetics ; Syndrome
Chemical Substances	MED12 protein, human ; Mediator Complex
Language	English
Publishing date	2021-06-02
Publishing country	United States
Document type	Letter ; Comment
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/s41436-021-01208-8
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