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  1. Article ; Online: A new set of N isotopic reference values for monitoring Ulva green tides in coral reef ecosystems.

    Van Wynsberge, Simon / Antypas, Florence / Brisset, Maële / Desnues, Anne / Jamet, Léocadie / Lagourgue, Laura / Payri, Claude / Jauffrais, Thierry / Lemonnier, Hugues

    Marine pollution bulletin

    2024  Volume 200, Page(s) 116152

    Abstract: Green tides occurrence has increased in coral reefs, yet few reference values have been documented to support bloom management in these ecosystems. Here, we took advantage of recent Ulva green tides that occurred in New Caledonia to (i) identify the ... ...

    Abstract Green tides occurrence has increased in coral reefs, yet few reference values have been documented to support bloom management in these ecosystems. Here, we took advantage of recent Ulva green tides that occurred in New Caledonia to (i) identify the elements limiting the growth of Ulva spp. during these blooms; and (ii) validate the use of isotopic markers for identifying sources of nutrients that generated blooms. N/P ratios highlighted a stronger limitation of algae by phosphorus than by nitrogen on sites under oceanic influence, while the proportions of N and P were optimal for algal growth at sites where green tides occurred. Macroalgae highly exposed to sewage water was characterized by higher δ
    MeSH term(s) Ulva ; Ecosystem ; Coral Reefs ; Reference Values ; Nitrogen ; Seaweed ; Eutrophication
    Chemical Substances Nitrogen (N762921K75)
    Language English
    Publishing date 2024-02-16
    Publishing country England
    Document type Journal Article
    ZDB-ID 2001296-2
    ISSN 1879-3363 ; 0025-326X
    ISSN (online) 1879-3363
    ISSN 0025-326X
    DOI 10.1016/j.marpolbul.2024.116152
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Platelet protein S limits venous but not arterial thrombosis propensity by controlling coagulation in the thrombus.

    Calzavarini, Sara / Prince-Eladnani, Raja / Saller, François / Bologna, Luca / Burnier, Laurent / Brisset, Anne C / Quarroz, Claudia / Reina Caro, Maria Desiré / Ermolayev, Vladimir / Matsumura, Yasuhiro / Fernández, José A / Hackeng, Tilman M / Griffin, John H / Angelillo-Scherrer, Anne

    Blood

    2020  Volume 135, Issue 22, Page(s) 1969–1982

    Abstract: ... high. At a low shear rate, PSplt functions as a cofactor for both activated protein C and tissue factor ...

    Abstract Anticoagulant protein S (PS) in platelets (PSplt) resembles plasma PS and is released on platelet activation, but its role in thrombosis has not been elucidated. Here we report that inactivation of PSplt expression using the Platelet factor 4 (Pf4)-Cre transgene (Pros1lox/loxPf4-Cre+) in mice promotes thrombus propensity in the vena cava, where shear rates are low, but not in the carotid artery, where shear rates are high. At a low shear rate, PSplt functions as a cofactor for both activated protein C and tissue factor pathway inhibitor, thereby limiting factor X activation and thrombin generation within the growing thrombus and ensuring that highly activated platelets and fibrin remain localized at the injury site. In the presence of high thrombin concentrations, clots from Pros1lox/loxPf4-Cre- mice contract, but not clots from Pros1lox/loxPf4-Cre+ mice, because of highly dense fibrin networks. Thus, PSplt controls platelet activation as well as coagulation in thrombi in large veins, but not in large arteries.
    MeSH term(s) Animals ; Bleeding Time ; Blood Coagulation/genetics ; Blood Coagulation/physiology ; Blood Platelets/metabolism ; Calcium-Binding Proteins/deficiency ; Calcium-Binding Proteins/genetics ; Calcium-Binding Proteins/metabolism ; Disease Models, Animal ; Female ; Humans ; Male ; Mice ; Mice, 129 Strain ; Mice, Inbred C57BL ; Mice, Knockout ; Mice, Transgenic ; Platelet Activation/genetics ; Platelet Activation/physiology ; Platelet Aggregation/genetics ; Platelet Aggregation/physiology ; Platelet Factor 4/genetics ; Platelet Factor 4/metabolism ; Protein S/genetics ; Protein S/metabolism ; Recombinant Proteins/genetics ; Recombinant Proteins/metabolism ; Thrombosis/blood ; Thrombosis/etiology ; Thrombosis/genetics ; Venous Thrombosis/blood ; Venous Thrombosis/etiology ; Venous Thrombosis/genetics
    Chemical Substances Calcium-Binding Proteins ; PF4 protein, human ; PROS1 protein, human ; Pros1 protein, mouse ; Protein S ; Recombinant Proteins ; Platelet Factor 4 (37270-94-3)
    Language English
    Publishing date 2020-04-10
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood.2019003630
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Connexins in vascular physiology and pathology.

    Brisset, Anne C / Isakson, Brant E / Kwak, Brenda R

    Antioxidants & redox signaling

    2008  Volume 11, Issue 2, Page(s) 267–282

    Abstract: Cellular interaction in blood vessels is maintained by multiple communication pathways, including gap junctions. They consist of intercellular channels ensuring direct interaction between endothelial and smooth muscle cells and the synchronization of ... ...

    Abstract Cellular interaction in blood vessels is maintained by multiple communication pathways, including gap junctions. They consist of intercellular channels ensuring direct interaction between endothelial and smooth muscle cells and the synchronization of their behavior along the vascular wall. Gap-junction channels arise from the docking of two hemichannels or connexons, formed by the assembly of six connexins, and achieve direct cellular communication by allowing the transport of small metabolites, second messengers, and ions between two adjacent cells. Physiologic variations in connexin expression are observed along the vascular tree, with most common connexins being Cx37, Cx40, and Cx43. Changes in the level of expression of connexins have been correlated to the development of vascular disease, such as hypertension, atherosclerosis, or restenosis. Recent studies on connexin-deficient mice highlighted key roles of these communication pathways in the development of these pathologies and confirmed the need for targeted pharmacologic approaches for their prevention and treatment. The aim of this issue is to review the current knowledge on the implication of gap junctions in vascular function and most common cardiovascular diseases.
    MeSH term(s) Animals ; Cell Communication ; Connexins/genetics ; Connexins/metabolism ; Connexins/physiology ; Endothelium, Vascular/metabolism ; Endothelium, Vascular/physiopathology ; Gap Junctions/metabolism ; Gap Junctions/physiology ; Humans ; Mice ; Muscle, Smooth, Vascular/metabolism ; Muscle, Smooth, Vascular/physiopathology ; Vascular Diseases/metabolism ; Vascular Diseases/pathology
    Chemical Substances Connexins
    Language English
    Publishing date 2008-09-16
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1483836-9
    ISSN 1557-7716 ; 1523-0864
    ISSN (online) 1557-7716
    ISSN 1523-0864
    DOI 10.1089/ars.2008.2115
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Prenatal diagnosis of isochromosome 20q in a fetus with vertebral anomaly and rocker-bottom feet.

    Receveur, Aline / Brisset, Sophie / Martinovic, Jelena / Bazin, Anne / Lhomann, Laurence / Colmant, Claire / Pineau, Dominique / Gautier, Valérie / Tosca, Lucie / Tachdjian, Gérard

    Taiwanese journal of obstetrics & gynecology

    2017  Volume 56, Issue 5, Page(s) 677–680

    Abstract: Objective: Isochromosome of the long arm of chromosome 20 (i(20q)) is a rare structural abnormality in prenatal diagnosis. Thirty prenatal cases of mosaic i(20q) have been reported, among which only four are associated with fetal malformations. We ... ...

    Abstract Objective: Isochromosome of the long arm of chromosome 20 (i(20q)) is a rare structural abnormality in prenatal diagnosis. Thirty prenatal cases of mosaic i(20q) have been reported, among which only four are associated with fetal malformations. We describe a new prenatal case of i(20q) with fetal malformations.
    Materials and methods: We also observed a discrepancy between uncultured and cultured amniotic fluid cells by using conventional cytogenetic, fluorescence in situ hybridization and array-SNP analysis.
    Results: The short arm deletion of chromosome 20 arising from the isochromosome encompassed two candidate genes PAX1 and JAG1 involved in cranio-facial and vertebral development.
    Conclusion: The data would allow establishing a phenotype-genotype correlation. Thus, we proposed to define a recognizable syndrome combining cranio-facial dysmorphism, vertebral bodies' anomalies, feet and cerebral malformations.
    Language English
    Publishing date 2017-10
    Publishing country China (Republic : 1949- )
    Document type Journal Article
    ISSN 1875-6263
    ISSN (online) 1875-6263
    DOI 10.1016/j.tjog.2017.08.018
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Locally aggressive rarely metastazing tumors and low-grade sarcoma in children, adolescents and young adults: The benefits of a national network.

    Brisset, Claire / Carton, Matthieu / Chemin-Airiau, Claire / Karanian, Marie / Vérité, Cécile / Corradini, Nadege / Mascard, Eric / Gouin, François / Bonvalot, Sylvie / Minard-Colin, Véronique / Fayard, Cindy / Pannier, Stéphanie / Blay, Jean-Yves / Le Nail, Louis-Romée / Le Loarer, François / Brisse, Hervé J / Chotel, Franck / Pierron, Gaëlle / Tirode, Franck /
    Defachelles, Anne-Sophie / Toulmonde, Maud / Orbach, Daniel

    European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology

    2021  Volume 48, Issue 3, Page(s) 508–517

    Abstract: Introduction: Complete surgical resection constitutes the mainstay of treatment for locally aggressive, rarely metastazing tumor and low-grade soft tissue sarcomas (LAS). Local relapse is the most common tumor event, especially in the presence of ... ...

    Abstract Introduction: Complete surgical resection constitutes the mainstay of treatment for locally aggressive, rarely metastazing tumor and low-grade soft tissue sarcomas (LAS). Local relapse is the most common tumor event, especially in the presence of positive margins (R1 margins). The aims of this study are to assess the impact of the national network on patient care and to evaluate the role of immediate re-excision in children, adolescents and young adults with incompletely resected LAS.
    Methods: National retrospective multicenter study of all young patients (≤25 years) included in the Sarcoma "ConticaBase" treated for LAS between 2005 and 2017 for whom pathology/biology review was available via the national NETSARC + network.
    Results: A total of 96 patients were identified (median age: 16 years). Tumors were localized in 99% of cases (1 N+ tumor). With a median follow-up of 4.7 years (range: 0.1-11.9), eight local relapses and two distant metastases were observed. No patient died. Overall 5-year event-free survival (EFS) was 90.4% [95%CI, 84.3-97]. Five year EFS for R1 patients (n = 51) with (n = 24) and without (n = 27) immediate re-excision was 90.5% [95%CI, 78.8-100.0] and 80.3% [95%CI, 64.7-99.9], respectively (p = 0.34). The 37 patients directly treated in a reference center more commonly had a diagnostic biopsy (78% vs. 21%; p < 0.001), more complete surgery (R0: 65% vs. 14%; p < 0.001) and less commonly underwent re-excision (16% vs. 54%; p < 0.001).
    Conclusions: This large series indicates that LAS are rare in young patients and have a favorable prognosis. Immediate management in reference centers is associated with better standard of care. The main tumor events are local relapses.
    MeSH term(s) Adolescent ; Child ; Humans ; Margins of Excision ; Neoplasm Recurrence, Local/pathology ; Retrospective Studies ; Sarcoma/surgery ; Soft Tissue Neoplasms/surgery ; Young Adult
    Language English
    Publishing date 2021-09-14
    Publishing country England
    Document type Journal Article ; Multicenter Study
    ZDB-ID 632519-1
    ISSN 1532-2157 ; 0748-7983
    ISSN (online) 1532-2157
    ISSN 0748-7983
    DOI 10.1016/j.ejso.2021.09.006
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.

    Mouka, Aurélie / Arkoun, Brahim / Moison, Pauline / Drévillon, Loïc / Jarray, Rafika / Brisset, Sophie / Mayeur, Anne / Bouligand, Jérôme / Boland-Auge, Anne / Deleuze, Jean-François / Yates, Frank / Lemonnier, Thomas / Callier, Patrick / Duffourd, Yannis / Nitschke, Patrick / Ollivier, Emmanuelle / Bourdin, Arnaud / De Vos, John / Livera, Gabriel /
    Tachdjian, Gérard / Maouche-Chrétien, Leïla / Tosca, Lucie

    Scientific reports

    2022  Volume 12, Issue 1, Page(s) 14302

    Abstract: ... into primordial germ-like cells (PGC-LCs). The expression of early PGC marker genes SOX17, CD-38, NANOS3, c-KIT ...

    Abstract Despite increasing insight into the genetics of infertility, the developmental disease processes remain unclear due to the lack of adequate experimental models. The advent of induced pluripotent stem cell (iPSC) technology has provided a unique tool for in vitro disease modeling enabling major advances in our understanding of developmental disease processes. We report the full characterization of complex genetic abnormalities in two infertile patients with either azoospermia or XX male syndrome and we identify genes of potential interest implicated in their infertility. Using the erythroblasts of both patients, we generated primed iPSCs and converted them into a naive-like pluripotent state. Naive-iPSCs were then differentiated into primordial germ-like cells (PGC-LCs). The expression of early PGC marker genes SOX17, CD-38, NANOS3, c-KIT, TFAP2C, and D2-40, confirmed progression towards the early germline stage. Our results demonstrate that iPSCs from two infertile patients with significant genetic abnormalities are capable of efficient production of PGCs. Such in vitro model of infertility will certainly help identifying causative factors leading to early germ cells development failure and provide a valuable tool to explore novel therapeutic strategies.
    MeSH term(s) Azoospermia/genetics ; Azoospermia/metabolism ; Cell Differentiation/genetics ; Erythroblasts ; Germ Cells/metabolism ; Humans ; Induced Pluripotent Stem Cells/metabolism ; Male
    Language English
    Publishing date 2022-08-22
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-022-17337-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Poison control centres and alternative forms of communication: comparison of response rates between text message and telephone follow-up.

    Vaucel, Jules-Antoine / Enaud, Nicolas / Paradis, Camille / Bragança, Coralie / Courtois, Arnaud / Lan, Maxime / Gil-Jardine, Cédric / Enaud, Raphaël / Labadie, Magali / Deguigne, Marie / Roux, Gaël Le / Descatha, Alexis / Azzouz, Ramy / Nisse, Patrick / Patat, Anne-Marie / Paret, Nathalie / Blanc-Brisset, Ingrid / Nardon, Audrey / Haro, Luc de /
    Simon, Nicolas / Delcourt, Nicolas / Pelissier, Fanny / Tournoud, Christine / Puskarczyk, Emmanuel / Langrand, Jérôme / Laborde-Casterot, Hervé / Care, Weniko / Vodovar, Dominique

    Clinical toxicology (Philadelphia, Pa.)

    2022  Volume 60, Issue 8, Page(s) 947–953

    Abstract: Introduction: In recent years, the number of patients managed by poison control centres (PCCs) has increased without a proportional increase in the number of physicians. To improve efficiency without neglecting patient follow-up, some PCCs have begun ... ...

    Abstract Introduction: In recent years, the number of patients managed by poison control centres (PCCs) has increased without a proportional increase in the number of physicians. To improve efficiency without neglecting patient follow-up, some PCCs have begun using text messages. We evaluated the difference in response rates between text messaging and traditional telephone follow-up.
    Materials and methods: This retrospective, monocentric, non-randomised cohort study was conducted using data from calls made by the New Aquitaine PCC between February 27, 2019, and March 31, 2019. Patients were contacted up to three times by a phone call or short message service (SMS).
    Results: For the analysis, 823 patients were included. At the end of follow-up, the response rates were similar in the phone call and SMS group (94
    Conclusion: Patients had good adherence to text messages. Text messages are easy to use, rapid, and allow the physician to easily prioritise follow-up without occupying the emergency line. Additionally, the costs of installation and maintenance are low for text message systems; these low costs facilitate the implementation of such services in various medical situations.
    MeSH term(s) Cell Phone ; Cohort Studies ; Communication ; Follow-Up Studies ; Humans ; Poison Control Centers ; Retrospective Studies ; Telephone ; Text Messaging
    Language English
    Publishing date 2022-03-21
    Publishing country England
    Document type Journal Article
    ZDB-ID 204476-6
    ISSN 1556-9519 ; 0009-9309 ; 0731-3810 ; 1556-3650
    ISSN (online) 1556-9519
    ISSN 0009-9309 ; 0731-3810 ; 1556-3650
    DOI 10.1080/15563650.2022.2051537
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.

    Huynh, Minh-Tuan / Lambert, Anne-Sophie / Tosca, Lucie / Petit, François / Philippe, Christophe / Parisot, Frédéric / Benoît, Virginie / Linglart, Agnès / Brisset, Sophie / Tran, Cong Toai / Tachdjian, Gérard / Receveur, Aline

    European journal of medical genetics

    2018  Volume 61, Issue 8, Page(s) 459–464

    Abstract: 15q24 microdeletion and microduplication syndromes are genetic disorders caused by non-allelic homologous recombination between low-copy repeats (LCRs) in the 15q24 chromosome region. Individuals with 15q24 microdeletion and microduplication syndromes ... ...

    Abstract 15q24 microdeletion and microduplication syndromes are genetic disorders caused by non-allelic homologous recombination between low-copy repeats (LCRs) in the 15q24 chromosome region. Individuals with 15q24 microdeletion and microduplication syndromes share a common 1.2 Mb critical interval, spanning from LCR15q24B to LCR15q24C. Patients with 15q24 microdeletion syndrome exhibit distinct dysmorphic features, microcephaly, variable developmental delay, multiples congenital anomalies while individuals with reciprocal 15q24 microduplication syndrome show mild developmental delay, facial dysmorphism associated with skeletal and genital abnormalities. We report the first case of a 10 year-old girl presenting mild developmental delay, psychomotor retardation, epilepsy, ventricular arrhythmia, overweight and idiopathic central precocious puberty. 180K array-CGH analysis identified a 1.38 Mb heterozygous interstitial 15q24.1 BP4-BP1 microdeletion including HCN4 combined with a concomitant 2.6 Mb heterozygous distal 15q24.2q24.3 microduplication. FISH analysis showed that both deletion and duplication occurred de novo in the proband. Of note, both copy number imbalances did not involve the 1.2 Mb minimal deletion/duplication critical interval of the 15q24.1q24.2 chromosome region (74.3-75.5 Mb). Sequencing of candidate genes for epilepsy and obesity showed that the proband was hemizygous for paternal A-at risk allele of BBS4 rs7178130 and NPTN rs7171755 predisposing to obesity, epilepsy and intellectual deficits. Our study highlights the complex interaction of functional polymorphisms and/or genetic variants leading to variable clinical manifestations in patients with submicroscopic chromosomal aberrations.
    Language English
    Publishing date 2018-03-14
    Publishing country Netherlands
    Document type Letter
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2018.03.005
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Book ; Online: Diatom-oxygen isotope record from high-altitude Lake Petit (2200 m a.s.l.) in the Mediterranean Alps

    Cartier, Rosine / Sylvestre, Florence / Paillès, Christine / Sonzogni, Corinne / Couapel, Martine / Alexandre, Anne / Mazur, Jean-Charles / Brisset, Elodie / Miramont, Cécile / Guiter, Frédéric

    eISSN: 1814-9332

    shedding light on a climatic pulse at 4.2 ka

    2019  

    Abstract: In the Mediterranean area, the 4.2 ka BP event is recorded with contrasting expressions between regions. In the southern Alps, the high-altitude Lake Petit (Mercantour Massif, France; 2200 m a.s.l.) offers pollen and diatom-rich sediments covering the ... ...

    Abstract In the Mediterranean area, the 4.2 ka BP event is recorded with contrasting expressions between regions. In the southern Alps, the high-altitude Lake Petit (Mercantour Massif, France; 2200 m a.s.l.) offers pollen and diatom-rich sediments covering the last 4800 years. A multi-proxy analysis recently revealed a detrital pulse around 4200 cal BP due to increasing erosion in the lake catchment. The involvement of a rapid climate change leading to increasing runoff and soil erosion was proposed. Here, in order to clarify this hypothesis, we measured the oxygen isotope composition of diatom silica frustules ( δ 18 O diatom ) from the same sedimentary core. Diatoms were analysed by laser fluorination isotope ratio mass spectrometry after an inert gas flow dehydration. We additionally enhanced the accuracy of the age–depth model using the Bacon R package. The δ 18 O diatom record allows us to identify a 500-year time lapse, from 4400 to 3900 cal BP, where δ 18 O diatom reached its highest values ( >31 ‰). δ 18 O diatom was about 3 ‰ higher than the modern values and the shifts at 4400 and 3900 cal BP were of similar amplitude as the seasonal δ 18 O diatom shifts occurring today. This period of high δ 18 O diatom values can be explained by the intensification of 18 O-enriched Mediterranean precipitation events feeding the lake during the ice-free season. This agrees with other records from the southern Alps suggesting runoff intensification around 4200 cal BP. Possible changes in other climatic parameters may have played a concomitant role, including a decrease in the contribution of 18 O-depleted Atlantic winter precipitation to the lake water due to snow deficit. Data recording the 4.2 ka BP event in the north-western Mediterranean area are still sparse. In the Lake Petit watershed, the 4.2 ka BP event translated into a change in precipitation regime from 4400 to 3900 cal BP. This record contributes to the recent efforts to characterize and investigate the geographical extent of the 4.2 ka BP event in the Mediterranean area.
    Subject code 333
    Language English
    Publishing date 2019-02-07
    Publishing country de
    Document type Book ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  10. Article ; Online: Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts.

    Raymond, Laure / Francou, Bruno / Petit, François / Tosca, Lucie / Briand-Suleau, Audrey / Metay, Corinne / Martinovic, Jelena / Cordier, Anne-Gaël / Benachi, Alexandra / Pineau, Dominique / Guiochon-Mantel, Anne / Goossens, Michel / Tachdjian, Gérard / Brisset, Sophie

    European journal of medical genetics

    2015  Volume 58, Issue 11, Page(s) 591–596

    Abstract: We report the prenatal detection of a de novo unbalanced complex chromosomal rearrangement (CCR), in a fetus with growth delay and bilateral cataracts. Standard karyotype and FISH analyses on amniotic fluid revealed a complex de novo translocation, ... ...

    Abstract We report the prenatal detection of a de novo unbalanced complex chromosomal rearrangement (CCR), in a fetus with growth delay and bilateral cataracts. Standard karyotype and FISH analyses on amniotic fluid revealed a complex de novo translocation, resulting in a 46,XY,t(1;12;14)(q42;q14;q32) karyotype. CGH-array showed a significant deletion of 387  kb at 12q14.3, at a distance of only 200-700 kb from the breakpoint at 12q14, which encompassed the HMGA2 gene and occurred de novo. Although 12q14 microdeletions are associated with growth delay in several reports in the literature, we present here the smallest deletion prenatally detected, and we detail the clinical description of the fetus. The correlation between cataracts and this complex genotype is puzzling. Among the genes disrupted by the breakpoint in 12q14, GRIP1 has been associated with abnormal eye development in mice, including lens degeneration. Interestingly, HMGA2 is expressed in the mouse's developing lens, and its expression is decreased in lens of elderly humans, correlated with the severity of lens opacity. In this report, we refine the link between HMGA2 loss of function and growth delay during prenatal development. We also discuss the correlation between cataracts and genotype in this unbalanced CCR case of unexpected complexity.
    MeSH term(s) Adult ; Cataract/diagnostic imaging ; Cataract/genetics ; Cataract/pathology ; Chromosome Breakpoints ; Chromosomes, Human, Pair 1/genetics ; Chromosomes, Human, Pair 12/genetics ; Chromosomes, Human, Pair 14/genetics ; Female ; Fetal Growth Retardation/diagnostic imaging ; Fetal Growth Retardation/genetics ; Gene Deletion ; HMGA2 Protein/genetics ; Humans ; Pregnancy ; Syndrome ; Translocation, Genetic ; Ultrasonography
    Chemical Substances HMGA2 Protein
    Language English
    Publishing date 2015-11
    Publishing country Netherlands
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2015.09.006
    Database MEDical Literature Analysis and Retrieval System OnLINE

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