Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

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1. Dandy‐Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26
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2. Inferior Cerebellar Hypoplasia Resembling a Dandy-Walker-Like Malformation in Purebred Eurasier Dogs with Familial Non-Progressive Ataxia: A Retrospective and Prospective Clinical Cohort Study
   Filipa Bernardino, Kai Rentmeister, Martin Jürgen Schmidt, Andreas Brühschwein, Kaspar Matiasek, Lara Alexa Matiasek, Alexander Lauda, Heinz Adolf Schoon, Andrea Fischer · 2015 · PLoS ONE
3. Disorders of Cranial Volume and Shape
   Gerald M. Fenichel · 2009 · Elsevier eBooks
4. Risk factors for Dandy–Walker malformation: A population‐based assessment
   Matthew R. Reeder, Lorenzo D. Botto, Kim M. Keppler‐Noreuil, John C. Carey, Janice L. B. Byrne, Marcia L. Feldkamp, the National Birth Defects Prevention Study · 2015 · American Journal of Medical Genetics Part A
5. A microarray screen for direct targets of Zic1 identifies an aquaporin gene, aqp‐3b, expressed in the neural folds
   E. Jean Cornish, Sabah Mohammed Hassan, Joshua D. Martin, Shuzhao Li, Christa Merzdorf · 2009 · Developmental Dynamics
6. La malformation de Dandy-Walker
   Olivier Klein, Alain Pierre‐Kahn · 2006 · Neurochirurgie
7. Regional brain development in fetuses with Dandy-Walker malformation: A volumetric fetal brain magnetic resonance imaging study
   Shizuko Akiyama, Neel Madan, George Graham, Osamu Samura, Rie Kitano, Hyuk Jin Yun, Alexa Kanwit Craig, Tomohiro Nakamura, Atsushi Hozawa, Patricia Ellen Grant et al. · 2022 · PLoS ONE
8. Common Variants Near ZIC1 and ZIC4 in Autopsy‐Confirmed Multiple System Atrophy
   Franziska Hopfner, Anja K. Tietz, Viktoria Ruf, Owen A. Ross, Shunsuke Koga, Dennis W. Dickson, Adriano Aguzzi, Johannes Attems, Thomas Beach, Allison Beller et al. · 2022 · Movement Disorders
9. Pathological ASXL1 Mutations and Protein Variants Impair Neural Crest Development
   Friederike Matheus, Ejona Rusha, Rizwan Rehimi, Lena Molitor, Anna Pertek, Miha Modic, Regina Feederle, Andrew Flatley, Elisabeth Kremmer, Arie Geerlof et al. · 2019 · Stem Cell Reports
10. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
    Maria Bejerholm Christensen, Amanda M. Levy, Nazanin A. Mohammadi, Marcello Niceta, Rauan B. Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valérie Benoît, Kailash P. Bhatia et al. · 2022 · Clinical Genetics
11. Disruptions in a cluster of computationally identified enhancers near FOXC1 and GMDS may influence brain development
    Genevieve Haliburton, Gabriel L. McKinsey, Katherine S. Pollard · 2015 · Neurogenetics
12. Dandy-Walker syndrome: an updated literature review
    María Isabel Ocampo-Navia, Wilfran Perez-Mendez, Maria Paula Rodriguez-Alvarez, Juan Chadid-Contreras, Manuel Vergara · 2025 · Child s Nervous System
13. Using neuroimaging genomics to investigate the evolution of human brain structure
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14. A Rare Case of Dandy-Walker Syndrome
    Mohammad Sharif Oria, Aziz Rahman Rasib, Ahmad Fawad Pirzad, Fahima Wali Ibrahim Khel, Mohammad Ismael Ibrahim Khel, Fazel Rahim Wardak · 2022 · International Medical Case Reports Journal
15. Development and Developmental Disorders of the Human Cerebellum
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16. The role of Zic genes in inner ear development in the mouse: Exploring mutant mouse phenotypes
    Andrew P. Chervenak, Lisa M. Gerlach‐Bank, Nicole Thomsen, Hannah C. Glanville‐Jones, Jonathan Skibo, Kathleen J. Millen, Ruth M. Arkell, Kate F. Barald · 2014 · Developmental Dynamics
17. Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome
    Nan Gai, Jiang Chen, Yongyi Zou, Yu Zheng, Desheng Liang, Lingqian Wu · 2016 · Clinica Chimica Acta
18. Endoscopic, Single-Catheter Treatment of Dandy-Walker Syndrome Hydrocephalus: Technical Case Report and Review of Treatment Options
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19. The role of zinc in the premature brain: functions, outcomes and future research perspectives
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20. ZIC1 is a context-dependent medulloblastoma driver in the rhombic lip
    John J. Y. Lee, Ran Tao, Zhen You, Parthiv Haldipur, Anders Wilder Erickson, Hamza Farooq, Liam D. Hendriske, Namal Abeysundara, Cory M. Richman, Evan Y. Wang et al. · 2025 · Nature Genetics
21. Overview of Rodent Zic Genes
    Koula E. M. Diamand, Kristen S. Barratt, Ruth M. Arkell · 2018 · Advances in experimental medicine and biology
22. Neuropathological findings in Dandy Walker Variant
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23. Dandy-Walker Syndrome: A Review of New Diagnosis and Management in Children
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24. Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood
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25. ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
    Lucia Laugwitz, Fubo Cheng, Stephan C. Collins, Alexander Hustinx, Nicolas Navarro, Simon Welsch, Helen Cox, Tzung‐Chien Hsieh, Aswinkumar Vijayananth, Rebecca Buchert et al. · 2024 · Brain
26. Pairwise comparisons of ten porcine tissues identify differential transcriptional regulation at the gene, isoform, promoter and transcription start site level
    Leila Farajzadeh, Henrik Hornshøj, Jamal Momeni, Bo Thomsen, Knud Larsen, Jakob Hedegaard, Christian Bendixen, Lone Bruhn Madsen · 2013 · Biochemical and Biophysical Research Communications
27. Model Organisms Inform the Search for the Genes and Developmental Pathology Underlying Malformations of the Human Hindbrain
    Kimberly A. Aldinger, Gina E. Elsen, Victoria Prince, Kathleen J. Millen · 2009 · Seminars in Pediatric Neurology
28. Blake′s pouch cyst and Werdnig-Hoffmann disease: Report of a new association and review of the literature
    Waleed Abdelfattah Azab, TarekM Alsheikh, RaniaM Hegazy, SherienA Shohoud · 2014 · Surgical Neurology International
29. Refractory Infantile Spasms Associated With Mosaic Variegated Aneuploidy Syndrome
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31. Purkinje cell compartmentalization in the cerebellum of the spontaneous mutant mouse dreher
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32. Sequencing of hippocampal and cerebellar transcriptomes provides new insights into the complexity of gene regulation in the human brain
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33. Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis
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34. Genome binding properties of Zic transcription factors underlie their changing functions during neuronal maturation
    Melyssa S. Minto, Jesús Emiliano Sotelo-Fonseca, Vijyendra Ramesh, Anne E. West · 2024 · BMC Biology
35. NDUFA4 enhances neuron growth by triggering growth factors and inhibiting neuron apoptosis through Bcl-2 and cytochrome C mediated signaling pathway.
    Fang Fu, Yan Li, Ru Li, Tingying Lei, Dan Wang, Xin Yang, Jin Han, Min Pan, Li Zhen, Yanmei Ou et al. · 2018 · PubMed Central
36. De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome
    Anand K. Ramineni, David John Coman · 2016 · Child Neurology Open
37. Developmental Structural Disorders
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38. nMOWChIP-seq: low-input genome-wide mapping of non-histone targets
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39. Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions
    Marjolein H. Willemsen, Nicole de Leeuw, Catherine Mercer, Helen Eisenhauer, Joanne Morris, Morag N. Collinson, John C.K. Barber, Stephen T.S. Lam, Ivan F. M. Lo, Hanneke Rensen et al. · 2010 · American Journal of Medical Genetics Part A
40. Neurogenesis in the Cerebellum
    V.V. Chizhikov, Kathleen J. Millen · 2013 · Elsevier eBooks
41. A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation
    Aritoshi Iida, Eri Takeshita, Shunichi Kosugi, Yoichiro Kamatani, Yukihide Momozawa, Michiaki Kubo, Eiji Nakagawa, Kenji Kurosawa, Ken Inoue, Yu-ichi Goto · 2018 · Human Genome Variation
42. Malformations
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43. Diagnosis of a case of D andy– W alker malformation aided by measurement of the brainstem–vermis angle at 14 weeks gestation
    Kiyotake Ichizuka, Miyuki Mishina, Junichi Hasegawa, Ryu Matsuoka, Akihiko Sekizawa, Ritsuko Kimata Pooh · 2014 · Journal of obstetrics and gynaecology research
44. Isolated Dandy–Walker malformation associated with brain stem dysgenesis in male sibs
    Ghada M. H. Abdel‐Salam, Marwa I.K. Shehab, Maha Saad Zaki · 2006 · Brain and Development
45. The Xfeb gene is directly upregulated by Zic1 during early neural development
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46. Bilateral perysilvian polymicrogyria in Chiari I malformation
    Alberto Spalice, Pasquale Parisi, Mario Mastrangelo, Francesca De Luca, Alberto Verrotti, Paola Iannetti · 2006 · Child s Nervous System
47. Dynamic allele usage of X-linked genes ameliorates neurodevelopmental disease phenotypes in brain organoids
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48. Maternal Grand Mal Seizure Leads to a Surprising Diagnosis of Dandy‐Walker Variant
    Sherri Garber Mendelson · 2011 · Journal of Obstetric, Gynecologic & Neonatal Nursing
49. De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability
    Maggie Brett, Ivy Ng, Eileen C.P. Lim, Min Hwee Yong, Zhihui Li, Angeline Lai, Ene‐Choo Tan · 2013 · Gene
50. Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis
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51. Magnetic Resonance Imaging Diagnosis of Dandy-Walker-Like Syndrome in a Wire-Haired Miniature Dachshund
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52. Oral findings and dental treatment in a patient with Dandy–Walker syndrome: a case report
    Yasuka Kusumoto, Osamu Shinozuka · 2013 · Special Care in Dentistry
53. DNA methylation landscapes from pig’s limbic structures underline regulatory mechanisms relevant for brain plasticity
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54. Dandy–Walker syndrome: a bibliometric analysis of the most 100 cited articles
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55. Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated
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56. Disorders of Cranial Volume and Shape
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59. Fetal Central Nervous System
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60. Disorders of Cerebellar and Brainstem Development
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62. Prenatal diagnosis of the Dandy–Walker malformation associated with partial trisomy 12p and distal 15q deletion
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78. 125 Dandy-Walker-Malformation
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82. Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1
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83. Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections
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