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1. Thevenon, Julien. Bases moléculaires et physiopathologiques de syndromes avec anomalies du développement et déficience intellectuelle : Molecular and patho-physiological basis of syndromes with developmental anomalies and intellectual disability.

Degree: Docteur es, Sciences de la vie, 2013, Université de Bourgogne

La déficience intellectuelle (DI) correspond à un défaut des performances intellectuelles et des fonctions adaptatives, débutant dans l’enfance. Il est estimé que 2-3% des individus développeront une DI, ce qui représente un enjeu médical important puisque les personnes avec DI sont fréquemment en situation de dépendance sociale. Dans l’ensemble, on estime majoritaire l’implication de facteurs génétique dans cette pathologie. A ce jour, plusieurs centaines de gènes sont connus pour être responsables de DI. La DI est notamment caractérisée par une extrême hétérogénéité clinique et génétique, qui l’a rendue résistante aux études génétiques classiques. Toutefois, on différencie les DI syndromiques, qui peuvent être cliniquement reconnaissables en raison des anomalies du développement qui lui est associées ; des DI isolées, sans signe distinctif.L’objectif de cette thèse est d’identifier des bases moléculaires de DI par la combinaison de deux approches. La première repose sur l’application systématique d’une recherche de microréarrangements chromosomiques par CGH-array dans un groupe de patients avec DI pour constituer a posteriori des groupes de patients homogènes. La seconde est basée sur une cohorte de patients avec DI syndromique homogène, porteurs d’un syndrome de Shprintzen-Goldberg de diagnostic clinique, étudiée par séquençage haut débit d’exome. Cette thèse définit de nouvelles entités cliniques par l’identification de variations génétiques récurrentes entre plusieurs patients comprenant la description de deux syndromes microdélétionnels, et de deux gènes candidats à la DI. De plus, nous avons pu identifier la base moléculaire du syndrome de Shprintzen-Goldberg par la mise en évidence d’un hotspot mutationnel du gène SKI.

Intellectual disability (ID) corresponds to abnormal intellectual performances and adaptive functions, beginning in childhood. It is estimated that 2-3% of individuals develop a ID, which represents a significant medical challenge since people with ID are frequently in situations of social dependence. Overall, a critical involvement of genetic factors in this disease is suspected. To date, several hundreds of genes are known to be responsible for ID. The ID is particularly characterized by extreme clinical and genetic heterogeneity, that made it resistant to conventional genetic studies. However, it is classicaly separated between syndromic ID, which may be clinically recognizable due to associated congenital anomalies; isolated ID, without disctinctive features.The objective of this thesis was to identify the molecular basis of ID by combining both approaches. The first is based on the systematic identification of chromosomal microrearrangements using array-CGH in a group of patients with ID, to constitute a posteriori homogeneous cohorts. The second is based on a cohort of patients with a clinical diagnosis of Shprintzen-Goldberg syndrome studied by high throughput sequencing.This thesis defines new clinical entities by identifying recurrent genetic variations between different patients…

Advisors/Committee Members: Olivier-Faivre, Laurence (thesis director).

Subjects/Keywords: Déficience intellectuelle; Anomalies du développement; Syndromes microdélétionnels; Maladies mendéliennes; Séquençage d’exome; Syndrome de Shprintzen-Goldberg; Intellectual disability; Multiple congenital anomalies; Microdeletionnal syndromes; Mendelian disorders; Exome sequencing; Shprintzen-Goldberg syndrome; 576; 571.8; 616

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Thevenon, J. (2013). Bases moléculaires et physiopathologiques de syndromes avec anomalies du développement et déficience intellectuelle : Molecular and patho-physiological basis of syndromes with developmental anomalies and intellectual disability. (Doctoral Dissertation). Université de Bourgogne. Retrieved from http://www.theses.fr/2013DIJOS092

Chicago Manual of Style (16th Edition):

Thevenon, Julien. “Bases moléculaires et physiopathologiques de syndromes avec anomalies du développement et déficience intellectuelle : Molecular and patho-physiological basis of syndromes with developmental anomalies and intellectual disability.” 2013. Doctoral Dissertation, Université de Bourgogne. Accessed October 29, 2020. http://www.theses.fr/2013DIJOS092.

MLA Handbook (7th Edition):

Thevenon, Julien. “Bases moléculaires et physiopathologiques de syndromes avec anomalies du développement et déficience intellectuelle : Molecular and patho-physiological basis of syndromes with developmental anomalies and intellectual disability.” 2013. Web. 29 Oct 2020.

Vancouver:

Thevenon J. Bases moléculaires et physiopathologiques de syndromes avec anomalies du développement et déficience intellectuelle : Molecular and patho-physiological basis of syndromes with developmental anomalies and intellectual disability. [Internet] [Doctoral dissertation]. Université de Bourgogne; 2013. [cited 2020 Oct 29]. Available from: http://www.theses.fr/2013DIJOS092.

Council of Science Editors:

Thevenon J. Bases moléculaires et physiopathologiques de syndromes avec anomalies du développement et déficience intellectuelle : Molecular and patho-physiological basis of syndromes with developmental anomalies and intellectual disability. [Doctoral Dissertation]. Université de Bourgogne; 2013. Available from: http://www.theses.fr/2013DIJOS092


Swedish University of Agricultural Sciences

2. Andersson, Lisa S. Equine trait mapping.

Degree: 2012, Swedish University of Agricultural Sciences

Assigning function to genes is essential for a better understanding of biological systems. To date, approximately half of the genes in the vertebrate genome have known function. Domestic animals are a rich source for trait mapping and in this thesis we have mapped three distinct equine phenotypes. The result provides increased knowledge regarding gene function and importantly, practical implications for horse welfare. In paper I and IV, we confirm that Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome is inherited as an incompletely dominant trait (p= 2.2x10-16). By first identifying a 208 kb identity-by decent (IBD) region and subsequently excluding polymorphic sites identified through Illumina sequencing, we conclude that the gene PMEL causes these defects in horse. Our findings, together with functional analyses recently published, support that the cause of MCOA syndrome is a missense mutation (Arg625Cys) near the transmembrane region of PMEL that results in altered biochemical properties. In paper II we show that variants in the MHC-II region influence the susceptibility to equine Insect Bite Hypersensitivity with the same marker risk allele identified in two distinct populations, OR 4.19 (p= 2.3x10-5) and 1.48 (p= 0.04) for Icelandic horses and Exmoor ponies respectively. In addition, homozygosity across the MHC-II region confers a higher risk of developing disease, OR= 2.67 (p= 1.3x10-3). Finally, in paper III we utilize the EquineSNP50 BeadChip to identify the first Gait locus in horse. A highly significant SNP (EMP2= 2.0x10-4) was identified to be consistent with a recessive mode of inheritance for the lateral gait pace in Icelandic horses, and confirmed in an independent sample set (p= 2.4x10-14). Illumina sequencing of an established IBD region identified a nonsense mutation in the gene DMRT3. A clearly dichotomous distribution in a panel of gaited and non-gaited breeds revealed that the DMRT3 mutation is permissive for a variety of alternate gaits. The mutation also has a favorable effect in harness racing horses. Functional characterization of the truncated protein demonstrated correct localization and an intact DNA binding profile. mRNA expression in a small population of commissural neurons from the spinal cord was confirmed in mutant and wild type horses. Further, a DMRT3 null mouse displayed a change in spinal cord circuit signaling and locomotion. These findings reveal a new molecule involved in the regulation of limb movement.

Subjects/Keywords: horses; breeds (animals); animal diseases; hypersensitivity; locomotion; animal performance; genetic inheritance; genetic maps; quantitative trait loci; genes; horse; association mapping; GWA; MCOA; IBH; Insect bite hypersensitivity; Multiple congenital ocular anomalies; pace; locomotion; athletic performance

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APA (6th Edition):

Andersson, L. S. (2012). Equine trait mapping. (Doctoral Dissertation). Swedish University of Agricultural Sciences. Retrieved from http://pub.epsilon.slu.se/9031/

Chicago Manual of Style (16th Edition):

Andersson, Lisa S. “Equine trait mapping.” 2012. Doctoral Dissertation, Swedish University of Agricultural Sciences. Accessed October 29, 2020. http://pub.epsilon.slu.se/9031/.

MLA Handbook (7th Edition):

Andersson, Lisa S. “Equine trait mapping.” 2012. Web. 29 Oct 2020.

Vancouver:

Andersson LS. Equine trait mapping. [Internet] [Doctoral dissertation]. Swedish University of Agricultural Sciences; 2012. [cited 2020 Oct 29]. Available from: http://pub.epsilon.slu.se/9031/.

Council of Science Editors:

Andersson LS. Equine trait mapping. [Doctoral Dissertation]. Swedish University of Agricultural Sciences; 2012. Available from: http://pub.epsilon.slu.se/9031/

3. Krgović, Danijela. Analiza klinično pomembnih strukturnih genomskih variabilnosti pri slovenskih otrocih z nepojasnjenim razvojnim ali duševnim zaostankom, s prirojenimi nepravilnostmi in z motnjami avtističnega spektra.

Degree: 2015, Univerza v Mariboru

Kljub intenzivni genetski obravnavi otrok z razvojno–nevrološkimi motnjami pri skoraj polovici obravnavanih ostaja vzrok motnje še vedno nepojasnjen. V zadnjih dveh desetletjih je uvedba tehnologije molekularne kariotipizacije bistveno izboljšala razumevanje genetskega vpliva na nastanek razvojno–nevroloških motenj. Tehnologija namreč omogoča pregled celotnega človeškega genoma pri višji resoluciji naenkrat. Molekularna kariotipizacija je omogočila odkrivanje novih strukturnih genomskih variabilnosti (SGV) v smislu delecij in duplikacij velikosti od nekaj kilo (kb) do nekaj mega baznih parov (Mb). Te spremembe so del normalne diverzitete človeškega genoma (benigne SGV), lahko pa so vzrok nastanka različnih motenj in bolezni (patološki SGV). Uvedba molekularne kariotipizacije v diagnostiki razvojno–nevroloških motenj je tako bistveno povečala število posameznikov, pri katerih so lahko določili genetski vzrok nastanka motnje, zato je postala prva metoda pri diagnosticiranju otrok z duševno manjrazvitostjo (DM), z razvojnim zaostankom (RZ), s prirojenimi nepravilnostmi in z motnjami avtističnega spektra (MAS). Ocena molekularne kariotipizacije kot diagnostične metode do sedaj v slovenski populaciji ni bila izvedena. V našo raziskavo smo zato vključili 159 otrok z MAS in 126 otrok z DM/RZ. V prvi skupini smo lahko odkrili genetski vzrok motnje pri 12,6 % preiskovancev. Pri otrocih z DM/RZ smo patološke SGV določili pri 15 % analiziranih. Natančnega kliničnega pomena analiziranega SGV nismo mogli določiti pri 7 % otrok z MAS in 10 % otrok z DM/RZ. Spremljanje opisov podobnih sprememb v literaturi ter primerjava z novimi primeri v mednarodnih podatkovnih bazah SGV, odkritih pri osebah z razvojno–nevrološkimi motnjami, bo v prihodnje pripomogla k razjasnitvi kliničnega pomena tudi teh sprememb. Med študijo smo določili tudi redko opisane ali do sedaj še neopisane primere patoloških sprememb. Tako smo med drugim v skupini otrok z MAS pri dečku z avtizmom in s hudo regresijo na govornem in razvojnem področju določili delecijo zadnjega eksona gena SHANK3, eno izmed najmanjših poročanih do sedaj. Gen SHANK3 je ključen gen sindroma Phelan–McDermid (PMS), za katerega so značilne bistveno večje genosmke spremembe. Analizirana delecija je tako bila ključna za pravilno postavitev diagnoze, saj je deček izražal polno klinično sliko PMS. Prvi v literaturi smo opisali na novo nastalo najmanjšo delecijo v kromosomski regiji 11q22.3 pri deklici z blagim DM in izrazitimi displastičnimi znaki. Pri novorojenki z RZ, s prirojenimi nepravilnostmi levega ušesa in specifičnim jokom smo določili kompleksno spremembo na kromosomu 5p. Z molekularno kariotipizacijo je pri preiskovanki bila določena na novo nastala terminalna delecija v regiji sindroma Cri–du–Chat (CDCS), ki ji sledi znatno večja duplikacija z inverzijo v regiji sindroma Trisomije 5p. Gre za sedmi opis tovrstne kompleksne spremembe v literaturi. Genotip–fenotip primerjava ter podatki iz literature so pokazali, da je klinična slika preiskovanke sestavljena iz fenotipskih… Advisors/Committee Members: Kokalj Vokač, Nadja.

Subjects/Keywords: Strukturne genomske variabilnosti; molekularna kariotipizacija; duševna manjrazvitost/razvojni zaostanek; motnje avtističnega spektra; slovenska populacija; Copy number variation; molecular karyotyping; developmental delay/intellectual disabilities; autism spectrum disorders; multiple congenital anomalies; Slovenian population

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Krgović, D. (2015). Analiza klinično pomembnih strukturnih genomskih variabilnosti pri slovenskih otrocih z nepojasnjenim razvojnim ali duševnim zaostankom, s prirojenimi nepravilnostmi in z motnjami avtističnega spektra. (Doctoral Dissertation). Univerza v Mariboru. Retrieved from https://dk.um.si/IzpisGradiva.php?id=47750 ; https://dk.um.si/Dokument.php?id=71060&dn= ; https://plus.si.cobiss.net/opac7/bib/512489016 ?lang=sl

Chicago Manual of Style (16th Edition):

Krgović, Danijela. “Analiza klinično pomembnih strukturnih genomskih variabilnosti pri slovenskih otrocih z nepojasnjenim razvojnim ali duševnim zaostankom, s prirojenimi nepravilnostmi in z motnjami avtističnega spektra.” 2015. Doctoral Dissertation, Univerza v Mariboru. Accessed October 29, 2020. https://dk.um.si/IzpisGradiva.php?id=47750 ; https://dk.um.si/Dokument.php?id=71060&dn= ; https://plus.si.cobiss.net/opac7/bib/512489016 ?lang=sl.

MLA Handbook (7th Edition):

Krgović, Danijela. “Analiza klinično pomembnih strukturnih genomskih variabilnosti pri slovenskih otrocih z nepojasnjenim razvojnim ali duševnim zaostankom, s prirojenimi nepravilnostmi in z motnjami avtističnega spektra.” 2015. Web. 29 Oct 2020.

Vancouver:

Krgović D. Analiza klinično pomembnih strukturnih genomskih variabilnosti pri slovenskih otrocih z nepojasnjenim razvojnim ali duševnim zaostankom, s prirojenimi nepravilnostmi in z motnjami avtističnega spektra. [Internet] [Doctoral dissertation]. Univerza v Mariboru; 2015. [cited 2020 Oct 29]. Available from: https://dk.um.si/IzpisGradiva.php?id=47750 ; https://dk.um.si/Dokument.php?id=71060&dn= ; https://plus.si.cobiss.net/opac7/bib/512489016 ?lang=sl.

Council of Science Editors:

Krgović D. Analiza klinično pomembnih strukturnih genomskih variabilnosti pri slovenskih otrocih z nepojasnjenim razvojnim ali duševnim zaostankom, s prirojenimi nepravilnostmi in z motnjami avtističnega spektra. [Doctoral Dissertation]. Univerza v Mariboru; 2015. Available from: https://dk.um.si/IzpisGradiva.php?id=47750 ; https://dk.um.si/Dokument.php?id=71060&dn= ; https://plus.si.cobiss.net/opac7/bib/512489016 ?lang=sl

.