Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome
Abstract
:1. Introduction
2. Case Report
3. Results
4. Discussion
5. Materials and Methods
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Disease Name or Mutated Gene | Genes/Chromosomes | Clinical Features |
---|---|---|
MA with autosomal dominant heritability | ||
Type 1 Neurofibromatosis [12,13] | Neurofibromatosis 1 (NF1) |
|
Noonan Syndrome [14,15] | Protein Tyrosine Phosphatase, non-receptor Type 1 (PTPN1) (12q24.13), Son Of Sevenless homolog 1 (Drosophila) (SOS1) (2p22.1), v-Raf-1 murine leukemia viral oncogene homolog 1 (RAF1), (3p25.2); more rarely: v-Ki-ras2 Kirsten Rat Sarcoma viral oncogene homolog (KRAS) (12p12.1), Neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS) (1p13.2), v-raf murine sarcoma viral oncogene homolog B1 (BRAF) (7q34), Mitogen-Activated Protein Kinase kinase 1 (MAP2K1) (15q22.31) |
|
Costello Syndrome [16] | v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS) (11p15.5) | Prenatal features: prematurity, lymphatic dysplasia, macrosomia, fetal arrhythmias, etc. Neonatal period:
|
Alagille Syndrome [17] | Jagged 1 (JAG 1) (20p12.2), NOTCH2 (1p12-p11) | Frequent symptoms:
|
Marfan Syndrome [18] | Fibrillin 1 (FBN1) |
|
MA with autosomal recessive heritability | ||
Sickle Cell Disease [19,20] | Hemoglobin Beta (HBB) (11p15.5) |
|
GUCY1A3 [11] | Guanylate Cyclase 1, soluble, Alpha 3 (GUCYIA3) (4q32.1) |
|
SAMHDI [21,22] | SAM domain and HD domain 1 (SAMHD1) (20q11.3) | Aicardi-Goutières syndrome:
Congenital glaucoma, arthritis, chilblain lupus |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II (MOPD II)/ Majewski Syndrome [23,24] | Pericentrin (PCNT) (21q22.3) |
|
Seckel Syndrome (microcephalic primordial dwarfism) [25] | Ataxia Telangiectasia and Rad3 related (ATR) (3q23), Retinoblastoma Binding Protein 8 (RBBP8) (18q11.2), Centromere Protein J (CENPJ) (13q12.12), Centrosomal Protein 152kDa (CEP152) (15q21.1), Centrosomal Protein 63Da (CEP63) (3q22.2), Ninein (GSK3B interacting protein) (NIN) (14q22.1) |
|
Genomic disorders | ||
6p25.3-p23 del/dup and 12q24.32-qter dup [26] | On the 6p region: Interferon Regulatory Factor 4 (IRF4) and other 51 Online Mendelian Inheritance in Man (OMIM) genes including forkhead box C1 (FOXC1); on the 12q region: 22 OMIM genes not associated with genetic disorders. |
|
Xq28 deletion [10,27] | Factor 8 (F8) (exons 1–6), FUN14 Domain Containing 2 (FUNDC2), mature T-cell proliferation 1 (MTCP1), nuclear gene encoding mitochondrial protein (MTCP1NB), BRCA1/BRCA2-containing complex, subunit 3 (BRCC3) | Frequent symptoms:
|
Smith-Magenis Syndrome (del 17p11.2-p13) [28,29] | More than 25 genes including: Retinoic Acid Induced 1 (RAI1), Mediator complex subunit 9 (MED9), RAS, dexamethasone-induced 1 (RASD1), Folliculin (FLCN), Peripheral Myelin Protein 22 (PMP22), Cytochrome C Oxidase assembly homolog 10 (COX10), ElaC ribonuclease Z 2 (ELAC2), Zinc Finger protein 18 (ZNF18), Myosin, Heavy chain 1 (MYH1) |
|
Trisomy 12p [30] | Genes included in the region of the rearrangement: 46, XX, rec(12)dup(12p)inv(12)(p11.2q24.3)mat |
|
1p32p31 Deletion [31] | OMIM genes included in the region of the rearrangement: Complement component 8, Alpha polypeptide (C8A), Complement component 8, alpha polypeptide (C8B), Tumor-Associated Calcium Signal Transducer 2 (TACSTD2), Angiopoietin-like 3 (ANGPTL3), Forkhead box D3 (FOXD3), ALG6, alpha-1,3-glucosyltransferase (ALG6), Phosphoglucomutase 1 (PGM1) |
|
5q13.3 Duplication and 18 (Decipher ID: 263336) | Cholinergic Receptor, Nicotinic, alpha 7 (CHRNA7), Ovarian Tumor (OTU) domain containing 7A (OTUD7A) (our report) |
|
Chromosome disorders | ||
Down Syndrome [32] | 21 |
|
Turner Syndrome [33] | X |
|
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Sciacca, F.L.; Rizzo, A.; Bedini, G.; Capone, F.; Di Lazzaro, V.; Nava, S.; Acerbi, F.; Sebastiano, D.R.; Binelli, S.; Faragò, G.; et al. Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome. Int. J. Mol. Sci. 2018, 19, 3675. https://doi.org/10.3390/ijms19113675
Sciacca FL, Rizzo A, Bedini G, Capone F, Di Lazzaro V, Nava S, Acerbi F, Sebastiano DR, Binelli S, Faragò G, et al. Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome. International Journal of Molecular Sciences. 2018; 19(11):3675. https://doi.org/10.3390/ijms19113675
Chicago/Turabian StyleSciacca, Francesca Luisa, Ambra Rizzo, Gloria Bedini, Fioravante Capone, Vincenzo Di Lazzaro, Sara Nava, Francesco Acerbi, Davide Rossi Sebastiano, Simona Binelli, Giuseppe Faragò, and et al. 2018. "Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome" International Journal of Molecular Sciences 19, no. 11: 3675. https://doi.org/10.3390/ijms19113675