De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights

被引：2

作者：

Brogna, Claudia ^{[1
,2
]}

Milano, Valentina ^{[3
,4
]}

Brogna, Barbara ^{[5
]}

Cristiano, Lara ^{[1
]}

Rovere, Giuseppe ^{[6
]}

De Sanctis, Roberto ^{[1
]}

Romeo, Domenico M. ^{[1
]}

Mercuri, Eugenio ^{[1
]}

Zampino, Giuseppe ^{[7
]}

机构：

[1] Univ Cattolica Sacro Cuore, Pediat Neurol Unit, Fdn Policlin Univ A Gemelli, IRCSS, I-00168 Rome, Italy

[2] ASL Avellino, Neuropsychiat Unit, I-83100 Avellino, Italy

[3] Univ Cattolica Sacro Cuore, Genet Unit, Fdn Policlin Univ A Gemelli, IRCSS, I-00168 Rome, Italy

[4] Sapienza Univ, Pediat Unit, I-00100 Rome, Italy

[5] SG Moscati Hosp, Radiol Unit, I-83100 Avellino, Italy

[6] Univ Cattolica Sacro Cuore, Orthoped Unit, Fdn Policlin Univ A Gemelli, IRCSS, I-00168 Rome, Italy

[7] Univ Cattolica Sacro Cuore, Pediat Unit, Fdn Policlin Univ A Gemelli, IRCSS, I-00168 Rome, Italy

来源：

BRAIN SCIENCES | 2021年 / 11卷 / 01期

关键词：

partial trisomy 13q; hemiparesis; epilepsy; ischemic and haemorrhagic cerebral lesions;

D O I：

10.3390/brainsci11010021

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

The partial trisomy 13q encompasses an extensive variability of phenotypic and radiological findings including leukoencephalopathy and brain malformations such as holoprosencephaly, callosal dysgenesis, hippocampal hypoplasia, olfactory hypoplasia, and vermian hypoplasia. We report for the first time a case of a 23-year-old patient affected by de novo partial 13q22.1q34 trisomy (41.7 Mb, 72,365,975-114,077,122x3) presenting with hemiparesis related to both ischemic and haemorrhagic cerebral lesions compatible with cerebral vasculitis due to a possible combination of genetic and immunological interaction.

引用

页码：1 / 6

页数：6

共 24 条

[1] Deficiency or inhibition of Gas6 causes platelet dysfunction and protects mice against thrombosis [J].

Angelillo-Scherrer, A ;

de Frutos, PG ;

Aparicio, C ;

Melis, E ;

Savi, P ;

Lupu, F ;

Arnout, J ;

Dewerchin, M ;

Hoylaerts, MF ;

Herbert, M ;

Collen, D ;

Dahlbäck, B ;

Carmeliet, P .

NATURE MEDICINE, 2001, 7 (02) :215-221

[2] Innate immune response gene expression profiles characterize primary antiphospholipid syndrome [J].

Bernales, I. ;

Fullaondo, A. ;

Marin-Vidalled, M. J. ;

Ucar, E. ;

Martinez-Taboada, V. ;

Lopez-Hoyos, M. ;

Zubiaga, A. M. .

GENES AND IMMUNITY, 2008, 9 (01) :38-46

[3] Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) [J].

Bramswig, Nuria C. ;

Bertoli-Avella, Aida M. ;

Albrecht, Beate ;

Al Aqeel, Aida I. ;

Alhashem, Amal ;

Al-Sannaa, Nouriya ;

Bah, Maissa ;

Broehl, Katharina ;

Depienne, Christel ;

Dorison, Nathalie ;

Doummar, Diane ;

Ehmke, Nadja ;

Elbendary, Hasnaa M. ;

Gorokhova, Svetlana ;

Heron, Delphine ;

Horn, Denise ;

James, Kiely ;

Keren, Boris ;

Kuechler, Alma ;

Ismail, Samira ;

Issa, Mahmoud Y. ;

Marey, Isabelle ;

Mayer, Michele ;

McEvoy-Venneri, Jennifer ;

Megarbane, Andre ;

Mignot, Cyril ;

Mohamed, Sarar ;

Nava, Caroline ;

Philip, Nicole ;

Ravix, Cecile ;

Rolfs, Arndt ;

Sadek, Abdelrahim Abdrabou ;

Segebrecht, Lara ;

Stanley, Valentina ;

Trautman, Camille ;

Valence, Stephanie ;

Villard, Laurent ;

Wieland, Thomas ;

Engels, Hartmut ;

Strom, Tim M. ;

Zaki, Maha S. ;

Gleeson, Joseph G. ;

Luedecke, Hermann-Josef ;

Bauer, Peter ;

Wieczorek, Dagmar .

HUMAN GENETICS, 2018, 137 (09) :753-768

[4]

Brewer C M, 2002, J Med Genet, V39, pe54, DOI 10.1136/jmg.39.9.e54

[5] Gas6/TAM Receptors in Systemic Lupus Erythematosus [J].

Cohen, Philip L. ;

Shao, Wen-Hai .

DISEASE MARKERS, 2019, 2019

[6] Plasma concentrations of Gas6 and sAxl correlate with disease activity in systemic lupus erythematosus [J].

Ekman, Carl ;

Jonsen, Andreas ;

Sturfelt, Gunnar ;

Bengtsson, Anders A. ;

Dahlback, Bjorn .

RHEUMATOLOGY, 2011, 50 (06) :1064-1069

[7] Gas6 gains entry into the coagulation cascade [J].

Foley, Jonathan H. ;

Conway, Edward M. .

BLOOD, 2013, 121 (04) :570-571

[8] Exploring the genetic basis of stroke. Spanish stroke genetics consortium [J].

Giralt-Steinhauer, E. ;

Jimenez-Conde, J. ;

Soriano Tarraga, C. ;

Mola, M. ;

Rodriguez-Campello, A. ;

Cuadrado-Godia, E. ;

Ois, A. ;

Fernandez-Cadenas, I. ;

Carrera, C. ;

Montaner, J. ;

Diaz Navarro, R. M. ;

Vives-Bauza, C. ;

Roquer, J. .

NEUROLOGIA, 2014, 29 (09) :560-566

[9] Association of a rare variant of the TNFSF13B gene with susceptibility to Rheumatoid Arthritis and Systemic Lupus Erythematosus [J].

Gonzalez-Serna, David ;

Ortiz-Fernandez, Lourdes ;

Vargas, Sofia ;

Garcia, Antonio ;

Raya, Enrique ;

Fernandez-Gutierrez, Benjamin ;

Javier Lopez-Longo, Francisco ;

Balsa, Alejandro ;

Gonzalez-Alvaro, Isidoro ;

Narvaez, Javier ;

Gomez-Vaquero, Carmen ;

Mario Sabio, Jose ;

Garcia-Portales, Rosa ;

Francisca Gonzalez-Escribano, Maria ;

Tolosa, Carles ;

Carreira, Patricia ;

Kiemeney, Lambertus ;

Coenen, Marieke J. H. ;

Witte, Torsten ;

Schneider, Matthias ;

Angel Gonzalez-Gay, Miguel ;

Martin, Javier .

SCIENTIFIC REPORTS, 2018, 8

[10] TACI and BCMA are receptors for a TNF homologue implicated in B-cell autoimmune disease [J].

Gross, JA ;

Johnston, J ;

Mudri, S ;

Enselman, R ;

Dillon, SR ;

Madden, K ;

Xu, WF ;

Parrish-Novak, J ;

Foster, D ;

Lofton-Day, C ;

Moore, M ;

Littau, A ;

Grossman, A ;

Haugen, H ;

Foley, K ;

Blumberg, H ;

Harrison, K ;

Kindsvogel, W ;

Clegg, CH .

NATURE, 2000, 404 (6781) :995-999

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