
SEMILOBAR HOLOPROSENCEPHALY CAUSED
BY A NOVEL AND DE NOVO ZIC2 PATHOGENIC VARIANT Nonkulovski D1, Sofijanova A1, Spasovska T1, Gorjan Milanovski2, Muaremoska-Kanzoska Lj1, Arsov T2,3 *Corresponding Author: Prof Todor Arsov MD MGC PhD, Faculty of Medical Sciences, University
Goce Delcev in Shtip, North Macedonia, E-mail: todor.arsov@ugd.edu.mk page: 71
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REFERENCES
1. Dubourg C, Bendavid C, Pasquier L, Henry C, Odent
S, David V. Holoprosencephaly. Orphanet J Rare Dis
2007, 2:8.
2. Poenaru MO, Vilcea ID, Marin A. Holoprosencephaly:
two case reports. Maedica 2012, 7: 58–62.
3. Tekendo-Ngongang C, Muenke M, Kruszka P. Holoprosencephaly
Overview, in GeneReviews https: //
www.ncbi.nlm.nih.gov/books/NBK1530/ (accessed
Nov, 2022)
4. Geng X, Oliver G. Pathogenesis of holoprosencephaly.
Journal of Clinical Investigation 2009, 1191403–
1413.
5. Solomon BD, Mercier S, Vélez JI, Pineda-Alvarez
D E, Wyllie A, Zhou N, et al. Analysis of genotypephenotype
correlations in human holoprosencephaly.
Am J Med Genet Part C Semin Med Genet 2010,
154C133–141.
6. Barratt KS, Arkell RM. ZIC2 in Holoprosencephaly.
Advances in Experimental Medicine and Biology
2018, 1046269–299.
7. Johnson C, Rasmussen S. Non-genetic risk factors for
holoprosencephaly. Am J Med Genet Part C Semin
Med Genet 2010, 154C73–85.
8. Kauvar EF, Muenke M. Holoprosencephaly: recommendations
for diagnosis and management. Current
Opinion in Pediatrics 2010, 22687–695.
9. Miller EA, Rasmussen SA, Siega-Riz AM, Frías
JL, Honein MA, National Birth Defects Prevention
Study. Risk factors for non-syndromic holoprosencephaly
in the National Birth Defects Prevention
Study. Am J Med Genet Part C Semin Med Genet
2010, 154C62–72.
10. Solomon BD, Lacbawan F, Mercier S, Clegg NJ,
Delgado MR, Rosenbaum K et al. Mutations in ZIC2
in human holoprosencephaly: description of a novel
ZIC2 specific phenotype and comprehensive analysis
of 157 individuals. Journal of Medical Genetics 2010,
47513–524.
11. Kruszka P, Muenke M. Syndromes associated with
holoprosencephaly. Am J Med Genet Part C Semin
Med Genet 2018, 178C229–237.
12. Parizad N, Faraji N, Hassanpour A, Goli R, Rostami
S, Amanollahzadeh A. Cyclopia, a newborn with a
single eye, a rare but lethal congenital anomaly: A
case report. Int J Surg Case Rep 2021, 88106548.
doi: 10.1016/j.ijscr.2021.106548.
13. Gurer HG, Gursoy OO, Eren CY. The assessment of
holoprosencephaly cases in the last 10 years. J Clin
Med Kaz 2021, 1891-94.
14. Demyer W, Zeman W. Alobar holoprosencephaly
(arhinencephaly) with median cleft lip and palate
clinical, electroencephalographic and nosologic considerations.
Conf in Neurol 1963, 231-36.
15. Keaton AA, Solomon BD, Kauvar EF, El-Jaick K B,
Gropman AL, Zafer Y et al. TGIF Mutations in Human
Holoprosencephaly: Correlation between Genotype
and Phenotype. Molecular Syndromology 2010,
1211–222.
16. Oliveira PAL, Silveira MMI, Silva RT, Valle AD.
Carbamazepine-responsive chorea in a toddler with
semilobar holoprosencephaly: Case report. J Ped
Neurosci 2021, 16335-337.
17. Barr M Jr, Hanson JW, Currey K, Sharp S, Toriello
H, Schmickel RD, Wilson GN. Holoprosencephaly in
infants of diabetic mothers. J Pediatr 1983, 102565-8.
18. Dubourg C, Kim A, Watrin E, de Tayrac M, Odent S,
David V, Dupé V. Recent advances in understanding
inheritance of holoprosencephaly. Am J Med Genet
Part C Semin Med Genet 2018, 178258–269.
19. Kim A, Savary C, Dubourg C, Carré W, Mouden C,
Hamdi-Rozé H, et al. Integrated clinical and omics approach
to rare diseases: novel genes and oligogenic inheritance
in holoprosencephaly. Brain 2019, 14235-49.
20. Xiong J, Xiang B, Chen X, Cai T. Case report: a
novel mutation in ZIC2 in an infant with microcephaly,
holoprosencephaly, and arachnoid cyst.
Medicine (Baltimore) 2019 98:e14780. doi: 10.1097/
MD.0000000000014780. 21. Loo C, Pearen A, Ramm GA. The Role of Sonic
Hedgehog in Human Holoprosencephaly and
Short-Rib Polydactyly Syndromes. Int J MolecSci
2021, 229854.
22. Kruszka P, Muenke M. Syndromes associated with
holoprosencephaly. Am J Med Genet Part C Semin
Med Genet 2018, 178229–237.
23. Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado
MR, Rosenbaum K, et al. Mutations in ZIC2
in human holoprosencephaly: description of a novel
ZIC2 specific phenotype and comprehensive analysis
of 157 individuals. Journal of Medical Genetics 2010,
47: 513–524.
24. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-
Foster J, et al. Standards and guidelines for the interpretation
of sequence variants: a joint consensus
recommendation of the American College of Medical
Genetics and Genomics and the Association for
Molecular Pathology. Genet Med 2015, 17405-24.
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