Browsing by Author "Firth, Helen"

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    Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate
    (NATURE PUBLISHING GROUP, 2016-01-01) Breckpot, Jeroen; Anderlid, Britt-Marie; Alanay, Yasemin; Blyth, Moira; Brahimi, Afane; Duban-Bedu, Benedicte; Goze, Odile; Firth, Helen; Yakicier, Mustafa Cengiz; Hens, Greet; Rayyan, Maissa; Legius, Eric; Vermeesch, Joris Robert; Devriendt, Koen
    We report on seven novel patients with a submicroscopic 22q12 deletion. The common phenotype constitutes a contiguous gene deletion syndrome on chromosome 22q12.1q12.2, featuring NF2-related schwannoma of the vestibular nerve, corpus callosum agenesis and palatal defects. Combining our results with the literature, eight patients are recorded with palatal defects in association with haploinsufficiency of 22q12.1, including the MN1 gene. These observations, together with the mouse expression data and the finding of craniofacial malformations including cleft palate in a Mn1-knockout mouse model, suggest that this gene is a candidate gene for cleft palate in humans.