Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Agenesis of Corpus Callosum / diagnosis
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Agenesis of Corpus Callosum / genetics*
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Agenesis of Corpus Callosum / metabolism
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Animals
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Child
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Child, Preschool
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Chromosome Deletion*
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Chromosome Mapping
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Chromosomes, Human, Pair 22*
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Cleft Palate / diagnosis
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Cleft Palate / genetics*
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Cleft Palate / metabolism
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Female
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Gene Expression
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Haploinsufficiency
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Humans
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Male
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Mice
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Mice, Knockout
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Neuroma, Acoustic / diagnosis
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Neuroma, Acoustic / genetics*
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Neuroma, Acoustic / metabolism
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Sequence Analysis, DNA
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Trans-Activators
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Tumor Suppressor Proteins / deficiency*
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Tumor Suppressor Proteins / genetics
Substances
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MN1 protein, human
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Trans-Activators
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Tumor Suppressor Proteins