Article
Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2026
Watts Laura M, Chang Michelle S M, Lewis-Orr Elizabeth, Walton Isaac S, Leinhos Lisa, Tooze Rebecca S, Pei Yang, Calpena Eduardo, Vedovato-Dos-Santos J Heather, Steel Dora, Reid Kimberley M, Kurian Manju A, Mohammad Shekeeb S, Cantagrel Vincent, Siquier Karine, Boddaert Nathalie, Rio Marlene, Blyth Moira, Kraus Alison, Al Mutairi Fuad, Holder Susan E, Clowes Virginia E, Cobben Jan M, Timberlake Andrew T, Elias Ellen R, Stewart Helen, Johnson Diana, Cohen Julie S, Barañano Kristin W, Ceulemans Sophia, Jones Marilyn C, Ortega Rico Rita I, Haug Marte G, Berland Siren, Bombei Hannah M, Paulson Anna, Sidhu Alpa, Gooch Catherine F, da Rocha Kátia M, Passos Bueno Maria Rita, Ţopa Alexandra, Muslimovic Aida Z, Maltese Giovanni, Tan Tiong Yang, McCann Emma, Lord Helen, Chin Hui-Lin, Lin Jeremy, Li-Meng Goh Denise, Keren Boris, Charles Perrine, Delchev Trayan, Avdjieva-Tzavella Daniela, Alawbathani Salem, Almeida Ligia, Kdissa Ameni, Al-Ali Ruslan, Bertoli-Avella Aida M, Johnson David, Wilkie Andrew O M, Arkell Ruth M, Shears Deborah J, Twigg Stephen R F
Abstract excerpt
PURPOSE: ZIC1 encodes a transcription factor with critical roles in vertebrate neural and skeletal development. Heterozygous deletions encompassing ZIC1 and ZIC4 cause Dandy-Walker malformation, whilst in the final exon heterozygous ZIC1 variants result in a distinct phenotype of craniosynostosis with variable intellectual disability via a gain-of-function mechanism. We describe the largest group of individuals...
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