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  1. Artikel ; Online: Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report.

    Previdi, Anaïk / Dubourg, Christèle / Cormier Daire, Valérie / Fradin, Mélanie / Collet, Corinne

    Clinical genetics

    2024  Band 105, Heft 6, Seite(n) 666–670

    Abstract: Low-density lipoprotein receptor-related protein 6 (LRP6) is a co-receptor of the Wnt signaling pathway, which plays an essential role in various biological activities during embryonic and postnatal development. LRP6 is exceptionally associated with rare ...

    Abstract Low-density lipoprotein receptor-related protein 6 (LRP6) is a co-receptor of the Wnt signaling pathway, which plays an essential role in various biological activities during embryonic and postnatal development. LRP6 is exceptionally associated with rare diseases and always with autosomal dominant inheritance. Here we report a familial phenotype of high bone mass associated with skeletal anomalies and oligodontia but also persistent left superior vena cava, inguinal hernia, hepatic cysts, abnormal posterior fossa and genital malformations. Molecular analysis revealed a novel heterozygous variant, NM_002336.2: c.724T>C, p.(Trp242Arg), in affected individuals. This variant is located in the first β-propellant motif of LRP6, to which sclerostin (SOST) and dickkopf1 (DKK1), two LRP6 co-receptor inhibitors and various Wnt ligands bind. According to the literature and integrating data from structural analysis, this variant distorts the binding of SOST and DKK1, thus leading to overactivation of Wnt signaling pathways involved in osteoblast differentiation. This novel heterozygous variant in LRP6 underlies the role of LRP6 in skeletal and dental disorders as well as, probably, cardiac, cerebral and genital developments.
    Mesh-Begriff(e) Humans ; Low Density Lipoprotein Receptor-Related Protein-6/genetics ; Male ; Female ; Phenotype ; Mutation/genetics ; Wnt Signaling Pathway/genetics ; Pedigree ; Intercellular Signaling Peptides and Proteins/genetics ; Adaptor Proteins, Signal Transducing/genetics
    Chemische Substanzen Low Density Lipoprotein Receptor-Related Protein-6 ; LRP6 protein, human ; DKK1 protein, human ; Intercellular Signaling Peptides and Proteins ; Adaptor Proteins, Signal Transducing
    Sprache Englisch
    Erscheinungsdatum 2024-02-22
    Erscheinungsland Denmark
    Dokumenttyp Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.14501
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report.

    Rolland, Marion / Dubourg, Christèle / Cospain, Auriane / Droitcourt, Catherine / Pasquier, Laurent

    Pediatric dermatology

    2022  Band 39, Heft 3, Seite(n) 434–437

    Abstract: Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME) syndrome is a very rare autosomal recessive neuroectodermal disorder related to PIGL gene mutations. Here, we report a patient who showed an ... ...

    Abstract Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME) syndrome is a very rare autosomal recessive neuroectodermal disorder related to PIGL gene mutations. Here, we report a patient who showed an initial delay in psychomotor development and skin abnormalities consistent with CHIME syndrome but with atypical clinical features and laboratory findings. In line with our clinical suspicion, the c.500T>C, p.(Leu167Pro) variant (found in all the previously described cases of CHIME syndrome) was found on the paternal allele. A novel "likely pathogenic" PIGL missense variant (c.154G>A, p.(Asp52Asn)) was detected on the maternal allele. This case provides new insights into the clinical spectrum of CHIME syndrome and highlights the potential for phenotypic/genotypic variations.
    Mesh-Begriff(e) Coloboma ; Hearing Loss, Conductive ; Heart Defects, Congenital/genetics ; Humans ; Ichthyosis ; Intellectual Disability/genetics ; N-Acetylglucosaminyltransferases/genetics ; Neurocutaneous Syndromes ; Phenotype ; Syndrome
    Chemische Substanzen N-Acetylglucosaminyltransferases (EC 2.4.1.-) ; PIGL protein, human (EC 3.5.1.89)
    Sprache Englisch
    Erscheinungsdatum 2022-03-08
    Erscheinungsland United States
    Dokumenttyp Case Reports
    ZDB-ID 605539-4
    ISSN 1525-1470 ; 0736-8046
    ISSN (online) 1525-1470
    ISSN 0736-8046
    DOI 10.1111/pde.14969
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific

    Cospain, Auriane / Faoucher, Marie / Cauchois, Aurélie / Carre, Wilfrid / Quelin, Chloé / Dubourg, Christèle

    Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

    2022  Band 25, Heft 5, Seite(n) 548–552

    Abstract: Holoprosencephaly (HPE) is a clinically and genetically heterogeneous disease, which can be associated with various prenatal comorbidities not always detectable on prenatal ultrasound. We report on the case of a foetus carrying a semi-lobar HPE diagnosed ...

    Abstract Holoprosencephaly (HPE) is a clinically and genetically heterogeneous disease, which can be associated with various prenatal comorbidities not always detectable on prenatal ultrasound. We report on the case of a foetus carrying a semi-lobar HPE diagnosed at ultrasound, for which a fetal autopsy and a whole exome sequencing were performed following a medical termination of pregnancy. Neuropathological examination confirmed the semi-lobar HPE and general autopsy disclosed a total pancreas agenesis. Whole exome sequencing found the
    Mesh-Begriff(e) Female ; Fetus/pathology ; Holoprosencephaly/diagnosis ; Holoprosencephaly/genetics ; Holoprosencephaly/pathology ; Humans ; Phenotype ; Pregnancy ; Syndrome ; Transcription Factors/genetics
    Chemische Substanzen CNOT1 protein, human ; Transcription Factors
    Sprache Englisch
    Erscheinungsdatum 2022-04-28
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 1463498-3
    ISSN 1615-5742 ; 1093-5266
    ISSN (online) 1615-5742
    ISSN 1093-5266
    DOI 10.1177/10935266221095305
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth.

    Guyodo, Hélène / Rizzo, Aurélie / Diab, Farah / Noury, Fanny / Mironov, Svetlana / de Tayrac, Marie / David, Véronique / Odent, Sylvie / Dubourg, Christèle / Dupé, Valérie

    Clinical and experimental dental research

    2024  Band 10, Heft 2, Seite(n) e861

    Abstract: Objectives: The main objective of this study was to evaluate how an apparently minor anomaly of the sphenoid bone, observed in a haploinsufficient mouse model for Sonic Hedgehog (Shh), affects the growth of the adult craniofacial region. This study aims ...

    Abstract Objectives: The main objective of this study was to evaluate how an apparently minor anomaly of the sphenoid bone, observed in a haploinsufficient mouse model for Sonic Hedgehog (Shh), affects the growth of the adult craniofacial region. This study aims to provide valuable information to orthodontists when making decisions regarding individuals carrying SHH mutation.
    Materials and methods: The skulls of embryonic, juvenile and adult mice of two genotypes (Shh heterozygous and wild type) were examined and measured using landmark-based linear dimensions. Additionally, we analysed the clinical characteristics of a group of patients and their relatives with SHH gene mutations.
    Results: In the viable Shh
    Conclusion: Haploinsufficiency of Shh leads to isolated craniofacial skeletal hypoplasia in adult mouse. This finding highlights the importance of radiographic monitoring of the skull base in all individuals with SHH gene mutations.
    Mesh-Begriff(e) Adult ; Animals ; Humans ; Mice ; Hedgehog Proteins/genetics ; Holoprosencephaly/genetics ; Mice, Inbred C57BL ; Mutation ; Sphenoid Bone
    Chemische Substanzen Hedgehog Proteins ; SHH protein, human ; Shh protein, mouse
    Sprache Englisch
    Erscheinungsdatum 2024-03-26
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2829558-4
    ISSN 2057-4347 ; 2057-4347
    ISSN (online) 2057-4347
    ISSN 2057-4347
    DOI 10.1002/cre2.861
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.

    Kopp, Johannes / Koch, Leonard A / Lyubenova, Hristiana / Küchler, Oliver / Holtgrewe, Manuel / Ivanov, Andranik / Dubourg, Christele / Launay, Erika / Brachs, Sebastian / Mundlos, Stefan / Ehmke, Nadja / Seelow, Dominik / Fradin, Mélanie / Kornak, Uwe / Fischer-Zirnsak, Björn

    Human genetics

    2024  Band 143, Heft 5, Seite(n) 683–694

    Abstract: Generalized lipodystrophy is a feature of various hereditary disorders, often leading to a progeroid appearance. In the present study we identified a missense and a frameshift variant in a compound heterozygous state in SUPT7L in a boy with intrauterine ... ...

    Abstract Generalized lipodystrophy is a feature of various hereditary disorders, often leading to a progeroid appearance. In the present study we identified a missense and a frameshift variant in a compound heterozygous state in SUPT7L in a boy with intrauterine growth retardation, generalized lipodystrophy, and additional progeroid features. SUPT7L encodes a component of the transcriptional coactivator complex STAGA. By transcriptome sequencing, we showed the predicted missense variant to cause aberrant splicing, leading to exon truncation and thereby to a complete absence of SUPT7L in dermal fibroblasts. In addition, we found altered expression of genes encoding DNA repair pathway components. This pathway was further investigated and an increased rate of DNA damage was detected in proband-derived fibroblasts and genome-edited HeLa cells. Finally, we performed transient overexpression of wildtype SUPT7L in both cellular systems, which normalizes the number of DNA damage events. Our findings suggest SUPT7L as a novel disease gene and underline the link between genome instability and progeroid phenotypes.
    Mesh-Begriff(e) Humans ; Male ; HeLa Cells ; Loss of Function Mutation ; Lipodystrophy, Congenital Generalized/genetics ; Fibroblasts/metabolism ; DNA Damage ; Mutation, Missense ; DNA Repair/genetics ; Lipodystrophy/genetics ; Transcription Factors/genetics ; Fetal Growth Retardation/genetics
    Sprache Englisch
    Erscheinungsdatum 2024-04-09
    Erscheinungsland Germany
    Dokumenttyp Journal Article ; Case Reports
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    DOI 10.1007/s00439-024-02669-y
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel ; Online: A Robust and Fast/Multiplex Pharmacogenetics Assay to Simultaneously Analyze 17 Clinically Relevant Genetic Polymorphisms in CYP3A4 , CYP3A5 , CYP1A2 , CYP2C9 , CYP2C19 , CYP2D6 , ABCB1, and VKORC1 Genes

    Camille Tron / Régis Bouvet / Marie-Clémence Verdier / Fabien Lamoureux / Benjamin Hennart / Christèle Dubourg / Eric Bellissant / Marie-Dominique Galibert

    Pharmaceuticals, Vol 15, Iss 637, p

    2022  Band 637

    Abstract: In the field of pharmacogenetics, the trend is to analyze a panel of several actionable genetic polymorphisms. It may require the use of high-throughput sequencing which demands expensive reagents/instruments and specific skills to interpret results. As ... ...

    Abstract In the field of pharmacogenetics, the trend is to analyze a panel of several actionable genetic polymorphisms. It may require the use of high-throughput sequencing which demands expensive reagents/instruments and specific skills to interpret results. As an alternative, the aim of this work was to validate an easy, fast, and inexpensive multiplex pharmacogenetics assay to simultaneously genotype a panel of 17 clinically actionable variants involved in drug pharmacokinetics/pharmacodynamics. We designed primers to perform a multiplex PCR assay using a single mix. Primers were labeled by two fluorescent dye markers to discriminate alleles, while the size of the PCR fragments analyzed by electrophoresis allowed identifying amplicon. Polymorphisms of interest were CYP3A4 *22, CYP3A5 *3, CYP1A2 *1F, CYP2C9 *2-*3, CYP2C19 *2-*3-*17, VKORC1 -1639G > A, ABCB1 rs1045642-rs1128503-rs2229109-rs2032582, and CYP2D6 *3-*4-*6-*9. The assay was repeatable and a minimum quantity of 10 ng of DNA/ sample was needed to obtain accurate results. The method was applied to a validation cohort of 121 samples and genotyping results were consistent with those obtained with reference methods. The assay was fast and cost-effective with results being available within one working-day. This robust assay can easily be implemented in laboratories as an alternative to cumbersome simplex assays or expensive multiplex approaches. Together it should widespread access to pharmacogenetics in clinical routine practice.
    Schlagwörter pharmacogenetics ; panel ; multiplex ; CYP450 ; personalized medicine ; Medicine ; R ; Pharmacy and materia medica ; RS1-441
    Sprache Englisch
    Erscheinungsdatum 2022-05-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  7. Artikel: A Robust and Fast/Multiplex Pharmacogenetics Assay to Simultaneously Analyze 17 Clinically Relevant Genetic Polymorphisms in

    Tron, Camille / Bouvet, Régis / Verdier, Marie-Clémence / Lamoureux, Fabien / Hennart, Benjamin / Dubourg, Christèle / Bellissant, Eric / Galibert, Marie-Dominique

    Pharmaceuticals (Basel, Switzerland)

    2022  Band 15, Heft 5

    Abstract: In the field of pharmacogenetics, the trend is to analyze a panel of several actionable genetic polymorphisms. It may require the use of high-throughput sequencing which demands expensive reagents/instruments and specific skills to interpret results. As ... ...

    Abstract In the field of pharmacogenetics, the trend is to analyze a panel of several actionable genetic polymorphisms. It may require the use of high-throughput sequencing which demands expensive reagents/instruments and specific skills to interpret results. As an alternative, the aim of this work was to validate an easy, fast, and inexpensive multiplex pharmacogenetics assay to simultaneously genotype a panel of 17 clinically actionable variants involved in drug pharmacokinetics/pharmacodynamics. We designed primers to perform a multiplex PCR assay using a single mix. Primers were labeled by two fluorescent dye markers to discriminate alleles, while the size of the PCR fragments analyzed by electrophoresis allowed identifying amplicon. Polymorphisms of interest were CYP3A4*22, CYP3A5*3, CYP1A2*1F, CYP2C9*2-*3, CYP2C19*2-*3-*17, VKORC1-1639G > A, ABCB1 rs1045642-rs1128503-rs2229109-rs2032582, and CYP2D6*3-*4-*6-*9. The assay was repeatable and a minimum quantity of 10 ng of DNA/ sample was needed to obtain accurate results. The method was applied to a validation cohort of 121 samples and genotyping results were consistent with those obtained with reference methods. The assay was fast and cost-effective with results being available within one working-day. This robust assay can easily be implemented in laboratories as an alternative to cumbersome simplex assays or expensive multiplex approaches. Together it should widespread access to pharmacogenetics in clinical routine practice.
    Sprache Englisch
    Erscheinungsdatum 2022-05-22
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2193542-7
    ISSN 1424-8247
    ISSN 1424-8247
    DOI 10.3390/ph15050637
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  8. Artikel: Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations.

    Anquetil, Aude / Khung Savatovsky, Suonavy / Gavard, Laurent / Bazin, Anne / Guimiot, Fabien / Dubourg, Christele / Mandelbrot, Laurent / Picone, Olivier

    Clinical case reports

    2021  Band 9, Heft 9, Seite(n) e04838

    Abstract: Testing the partner of a BRCA2 carrier must always be discussed. If both members of the couple are BRCA2 carriers, they should be informed about the high risks of polymalformative syndromes. ...

    Abstract Testing the partner of a BRCA2 carrier must always be discussed. If both members of the couple are BRCA2 carriers, they should be informed about the high risks of polymalformative syndromes.
    Sprache Englisch
    Erscheinungsdatum 2021-09-22
    Erscheinungsland England
    Dokumenttyp Case Reports
    ZDB-ID 2740234-4
    ISSN 2050-0904
    ISSN 2050-0904
    DOI 10.1002/ccr3.4838
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  9. Artikel ; Online: Case report

    Aude Anquetil / Suonavy Khung Savatovsky / Laurent Gavard / Anne Bazin / Fabien Guimiot / Christele Dubourg / Laurent Mandelbrot / Olivier Picone

    Clinical Case Reports, Vol 9, Iss 9, Pp n/a-n/a (2021)

    Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations

    2021  

    Abstract: Abstract Testing the partner of a BRCA2 carrier must always be discussed. If both members of the couple are BRCA2 carriers, they should be informed about the high risks of polymalformative syndromes. ...

    Abstract Abstract Testing the partner of a BRCA2 carrier must always be discussed. If both members of the couple are BRCA2 carriers, they should be informed about the high risks of polymalformative syndromes.
    Schlagwörter BRCA2 ; Fanconi anemia ; Genetics ; Genetic counseling ; Polymalformative symdrome ; Prenatal diagnosis ; Medicine ; R ; Medicine (General) ; R5-920
    Sprache Englisch
    Erscheinungsdatum 2021-09-01T00:00:00Z
    Verlag Wiley
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  10. Artikel ; Online: Gene Editing Corrects

    Leclerc, Delphine / Goujon, Louise / Jaillard, Sylvie / Nouyou, Bénédicte / Cluzeau, Laurence / Damaj, Léna / Dubourg, Christèle / Etcheverry, Amandine / Levade, Thierry / Froissart, Roseline / Dréano, Stéphane / Guillory, Xavier / Eriksson, Leif A / Launay, Erika / Mouriaux, Frédéric / Belaud-Rotureau, Marc-Antoine / Odent, Sylvie / Gilot, David

    The CRISPR journal

    2023  Band 6, Heft 1, Seite(n) 17–31

    Abstract: Ganglioside-monosialic acid (GM1) gangliosidosis, a rare autosomal recessive disorder, is frequently caused by deleterious single nucleotide variants (SNVs) ... ...

    Abstract Ganglioside-monosialic acid (GM1) gangliosidosis, a rare autosomal recessive disorder, is frequently caused by deleterious single nucleotide variants (SNVs) in
    Mesh-Begriff(e) Humans ; Gangliosidosis, GM1/therapy ; Gangliosidosis, GM1/drug therapy ; beta-Galactosidase/genetics ; beta-Galactosidase/chemistry ; beta-Galactosidase/metabolism ; Gene Editing ; CRISPR-Cas Systems/genetics ; Alleles
    Chemische Substanzen beta-Galactosidase (EC 3.2.1.23) ; GLB1 protein, human (EC 3.2.1.23)
    Sprache Englisch
    Erscheinungsdatum 2023-01-11
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3017891-5
    ISSN 2573-1602 ; 2573-1599
    ISSN (online) 2573-1602
    ISSN 2573-1599
    DOI 10.1089/crispr.2022.0045
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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