Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature
Abstract
:1. Introduction
2. Case Report
Patient Presentation
3. Discussion
4. Conclusions
Acknowledgments
Author Contributions
Conflicts of Interest
References
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Chromosomic Disorders | Chromosome Involved |
Down syndrome (complete or mosaic form) [3] | 21 |
Turner syndrome (complete or mosaic form) [4] | X |
Genomic Disorders | Gene/s Involved |
6p25.3-p23 del/dup and 12q24.32-qter dup [5] | On 6p region: IRF4 and other 51 OMIM genes including FOXC1; On 12q region: 22 OMIM genes not associated with genetic disorders. |
15q13.3 duplication (Decipher ID: 263336) [2,6] | CHRNA7, OTUD7A |
Xq28 deletion [7] | F8 (exon 1-6), FUNDC2, MTCP1NB, MTCP1, BRCC3 |
Smith-Magenis syndrome (del 17p11.2-p13.1) [8] | More than 25 genes including: RAI1; MED9; RASD1; FLCN; PMP22; COX10; ELAC2; ZNF18; MYH1 |
Trisomy 12p [9] | Genes included in the region of the rearrangement: 46, XX, rec(12)dup(12p)inv(12)(p11.2q24.3)mat |
1p32p31 deletion (present report) | OMIM genes included in the region of the rearrangement: C8A; C8B; TACSTD2; ANGPTL3; FOXD3; ALG6; PGM1 |
Monogenic Disorders | Gene/s Involved |
Type 1 Neurofibromatosis [10] | NF1 |
Noonan syndrome [11] | PTPN11, SOS1, RAF1 and, more rarely: KRAS; NRAS; BRAF, and; MAP2K1 |
Costello syndrome [12] | HRAS |
Alagille syndrome [13] | JAG1, NOTCH2 |
Marfan syndrome [14] | FBN1 |
Sickle cell disease [15] | HBB |
Moyamoya disease-6 with achalasia [16] | GUCY1A3 |
SAMHD1-related disorders [17] | SAMHD1 |
MOPD2/Majewski syndrome [18] | PCNT |
Seckel syndrome (microcephalic primordial dwarfism) [19] | ATR, RBBP8, CENPJ, CEP152, CEP63, NIN |
Clinical Features | Present Case | Frequency on Reported Cases (Literature, Decipher, Present Case) | Total | References |
---|---|---|---|---|
Brain malformations | + | 12/20 | 60% | Decipher ID: 288170; Literature: [16,17,18,19,20,21] |
Corpus callosum defects | + | 11/20 | 55% | Decipher ID: 251391-4638; Literature: [16,17,18,19,20,21] |
Facial dysmorphisms | + | 9/20 | 45% | Decipher ID: 264827-285848; Literature: [16,17,18,19,20,21] |
Genito-urinary defects | + | 7/20 | 35% | Literature: [16,18,19,20,21] |
Developmental delay | − | 6/20 | 30% | Decipher ID: 264827-285848; Literature: [16,17,19,20] |
Intellectual disability | + | 5/20 | 25% | Decipher ID: 251391-288170-4638 |
Hypotonia | + | 5/20 | 25% | Decipher ID: 285848; Literature: [16,17,19,20] |
Language disabilities | + | 3/20 | 15% | Decipher ID: 276512 |
Craniosynostosis | + | 2/20 | 10% | Decipher ID: 251391 |
Moyamoya disease | + | 1/20 | 5% | - |
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Prontera, P.; Rogaia, D.; Mencarelli, A.; Ottaviani, V.; Sallicandro, E.; Guercini, G.; Esposito, S.; Bersano, A.; Merla, G.; Stangoni, G. Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature. Int. J. Mol. Sci. 2017, 18, 1998. https://doi.org/10.3390/ijms18091998
Prontera P, Rogaia D, Mencarelli A, Ottaviani V, Sallicandro E, Guercini G, Esposito S, Bersano A, Merla G, Stangoni G. Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature. International Journal of Molecular Sciences. 2017; 18(9):1998. https://doi.org/10.3390/ijms18091998
Chicago/Turabian StyleProntera, Paolo, Daniela Rogaia, Amedea Mencarelli, Valentina Ottaviani, Ester Sallicandro, Giorgio Guercini, Susanna Esposito, Anna Bersano, Giuseppe Merla, and Gabriela Stangoni. 2017. "Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature" International Journal of Molecular Sciences 18, no. 9: 1998. https://doi.org/10.3390/ijms18091998