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  1. Article: Long-read sequencing unravels the complexity of structural variants in

    Cogan, Guillaume / Daida, Kensuke / Billingsley, Kimberley J / Tesson, Christelle / Forlani, Sylvie / Jornea, Ludmila / Arnaud, Lionel / Tissier, Laurene / LeGuern, Eric / Singleton, Andrew B / Ferrien, Mélanie / Gervais Bernard, Hélène / Lesage, Suzanne / Blauwendraat, Cornelis / Brice, Alexis

    medRxiv : the preprint server for health sciences

    2024  

    Abstract: Background: PRKN: Objectives: Identify the genetic cause in two siblings with a : Methods: The genetic investigation involved standard testing using successively multiple ligation probe amplification (MLPA), Sanger sequencing, targeted sequencing, ...

    Abstract Background: PRKN
    Objectives: Identify the genetic cause in two siblings with a
    Methods: The genetic investigation involved standard testing using successively multiple ligation probe amplification (MLPA), Sanger sequencing, targeted sequencing, whole-exome sequencing and LRS.
    Results: MLPA and targeted sequencing identified one copy of exon four in
    Conclusions: This study highlights the potential utility of long-read sequencing in the context of unsolved typical
    Language English
    Publishing date 2024-05-03
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.05.02.24306523
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.

    Cogan, Guillaume / Bourgon, Nicolas / Borghese, Roxana / Julien, Emmanuel / Jaquette, Aurélia / Stos, Bertrand / Achaiaa, Amale / Chuon, Sophie / Nitschke, Patrick / Fourrage, Cécile / Stirnemann, Julien / Boutaud, Lucile / Attie-Bitach, Tania

    Molecular genetics & genomic medicine

    2023  Volume 11, Issue 9, Page(s) e2219

    Abstract: Introduction: CREBBP truncating mutations and deletions are responsible for the well-known Rubinstein-Taybi syndrome. Recently, a new, distinct CREBBP-linked syndrome has been described: missense mutations located at the 3' end of exon 30 and the 5' ... ...

    Abstract Introduction: CREBBP truncating mutations and deletions are responsible for the well-known Rubinstein-Taybi syndrome. Recently, a new, distinct CREBBP-linked syndrome has been described: missense mutations located at the 3' end of exon 30 and the 5' portion of exon 31 induce Menke-Hennekam syndrome. Patients with this syndrome present a recognizable facial dysmorphism, intellectual disability of variable severity, microcephaly, short stature, autism, epilepsy, visual and hearing impairments, feeding problems, upper airway infections, scoliosis, and/or kyphosis. To date, all diagnoses were made postnatally.
    Method and case report: Trio-whole exome sequencing (WES) was performed in a fetus showing increased nuchal translucency persistence and aorta abnormalities at 28 weeks of gestation (WG).
    Results: WES revealed a CREBBP de novo missense mutation (c.5602C>T; p.Arg1868Trp) in exon 31, previously reported as the cause of Menke-Hennekam syndrome. Termination of pregnancy was performed at 32 WG. We further reviewed the prenatal signs of Menke-Hennekam syndrome already reported. Among the 35 patients reported and diagnosed postnatally up to this day, 15 presented recognizable prenatal signs, the most frequent being intra-uterine growth retardation, brain, and cardiovascular anomalies.
    Conclusion: Menke-Hennekam is a rare syndrome with unspecific, heterogeneous, and inconstant prenatal symptoms occurring most frequently with the c.5602C>T, p.(Arg1868Trp) mutation. Therefore, the prenatal diagnosis of Menke-Hennekam syndrome is only possible by molecular investigation. Moreover, this case report and review reinforce the importance of performing prenatal WES when unspecific signs are present on imaging.
    MeSH term(s) Pregnancy ; Female ; Humans ; Phenotype ; Exome Sequencing ; Mutation ; Rubinstein-Taybi Syndrome/genetics ; Mutation, Missense ; Menkes Kinky Hair Syndrome
    Language English
    Publishing date 2023-06-23
    Publishing country United States
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 2734884-2
    ISSN 2324-9269 ; 2324-9269
    ISSN (online) 2324-9269
    ISSN 2324-9269
    DOI 10.1002/mgg3.2219
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.

    Lévy, Jonathan / Cogan, Guillaume / Maruani, Anna / Maillard, Arnaud / Dupont, Céline / Drunat, Séverine / Rachid, Myriam / Atzori, Paola / Delorme, Richard / Jeyarajah, Sabatini / Isidor, Bertrand / Pichon, Olivier / Moradkhani, Kamran / Verloes, Alain / Tabet, Anne-Claude

    Clinical genetics

    2021  Volume 101, Issue 3, Page(s) 364–370

    Abstract: Transcriptor co-activator factor 20 gene (TCF20) encodes a nuclear chromatin-binding protein involved in regulation of gene expression. In human pathology, pathogenic variants or deletions in TCF20 were identified in patients with developmental delay, ... ...

    Abstract Transcriptor co-activator factor 20 gene (TCF20) encodes a nuclear chromatin-binding protein involved in regulation of gene expression. In human pathology, pathogenic variants or deletions in TCF20 were identified in patients with developmental delay, variable intellectual disability and behavioral impairment (OMIM: 618430). The shared core phenotype includes developmental delay, hypotonia, motor delay, autism spectrum disorders, neurobehavioral anomalies, neurological features such as ataxia, seizures, movement disorders, structural brain anomalies, craniofacial features and various congenital anomalies. Most pathogenic variants are loss-of-function variants. Duplication including TCF20 was suspected to cause a neurodevelopmental disorder (NDD) with mirror traits compared to patients with TCF20 deletions. In the present study, we report three patients from three unrelated families with NDD with a de novo duplication at 22q13.2 encompassing TCF20. We propose that the TCF20 duplication could be involved in a new 22q13.2 microduplication syndrome with high penetrance, enlarging the genotype-phenotype knowledge of TCF20-associated NDDs.
    MeSH term(s) Autism Spectrum Disorder/genetics ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Muscle Hypotonia/genetics ; Neurodevelopmental Disorders/genetics ; Nuclear Proteins/genetics ; Penetrance ; Phenotype ; Transcription Factors/genetics ; Transcription Factors/metabolism
    Chemical Substances Nuclear Proteins ; TCF20 protein, human ; Transcription Factors
    Language English
    Publishing date 2021-12-28
    Publishing country Denmark
    Document type 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.14099
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 413: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (1.OG)
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  4. Article ; Online: Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).

    Courdier, Cécile / Boudjarane, John / Malan, Valérie / Muti, Christine / Sperelakis-Beedham, Brian / Odent, Sylvie / Jaillard, Sylvie / Quelin, Chloé / Le Caignec, Cédric / Patat, Olivier / Dubucs, Charlotte / Julia, Sophie / Schluth-Bolard, Caroline / Goumy, Carole / Redon, Sylvia / Gaillard, Jean-Baptiste / Huynh, Minh Tuan / Dupont, Céline / Tabet, Anne-Claude /
    Cogan, Guillaume / Vialard, François / Dard, Rodolphe / Jedraszak, Guillaume / Jobic, Florence / Lefebvre, Mathilde / Quenum, Geneviève / Inai, Saori / Rama, Mélanie / Sauvestre, Fanny / Coatleven, Frédéric / Thomas, Julie / Rooryck, Caroline

    Prenatal diagnosis

    2023  Volume 43, Issue 6, Page(s) 734–745

    Abstract: Objective: We aimed to gather fetal cases carrying a 7q11.23 copy number variation (CNV) and collect precise clinical data to broaden knowledge of antenatal features in these syndromes.: Methods: We retrospectively recruited unrelated cases with 7q11. ...

    Abstract Objective: We aimed to gather fetal cases carrying a 7q11.23 copy number variation (CNV) and collect precise clinical data to broaden knowledge of antenatal features in these syndromes.
    Methods: We retrospectively recruited unrelated cases with 7q11.23 deletion, known as Williams-Beuren syndrome (WBS), or 7q11.23 duplication who had prenatal ultrasound findings. We collected laboratory and clinical data, fetal ultrasound, cardiac ultrasound and fetal autopsy reports from 18 prenatal diagnostic centers throughout France.
    Results: 40 fetuses with WBS were collected and the most common features were intra-uterine growth retardation (IUGR) (70.0%, 28/40), cardiovascular defects (30.0%, 12/40), polyhydramnios (17.5%, 7/40) and protruding tongue (15.0%, 6/40). Fetal autopsy reports were available for 11 cases and were compared with ultrasound prenatal features. Four cases of fetuses with 7q11.23 microduplication were collected and prenatal ultrasound signs were variable and often isolated.
    Conclusion: This work strengthens the fact that 7q11.23 CNVs are associated with a broad spectrum of antenatal presentations. IUGR and cardiovascular defects were the most frequent ultrasound signs. By reporting the biggest series of antenatal WBS, we aim to better delineate distinctive signs in fetuses with 7q11.23 CNVs.
    MeSH term(s) Humans ; Female ; Pregnancy ; Williams Syndrome/diagnostic imaging ; Williams Syndrome/genetics ; Williams Syndrome/complications ; DNA Copy Number Variations ; Retrospective Studies ; Fetal Growth Retardation ; Ultrasonography
    Language English
    Publishing date 2023-03-23
    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.6340
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1625: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
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    ab Jg. 2022: Lesesaal (EG)

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