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Am J Med Genet A. 2017 May;173(5):1264-1269. doi: 10.1002/ajmg.a.38168. Epub 2017 Mar 29.

MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.

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Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
Department of Pediatrics, Osaka Medical College, Osaka, Japan.
Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.


MED13L haploinsufficiency syndrome is a clinical condition manifesting intellectual disability and developmental delay in association with various complications including congenital heart defects and dysmorphic features. Most of the previously reported patients showed de novo loss-of-function mutations in MED13L. Additional three patients with MED13L haploinsufficiency syndrome were identified here in association with rare complications. One patient had a de novo deletion (c.257delT) and T2-weighted high intensity in the occipital white matter on magnetic resonance imaging. Two siblings exhibited an intragenic deletion involving exons 3-14, which led to an in-frame deletion in MED13L. The deletion was inherited from their carrier mother who possessed low frequency mosaicism. The older sister of the siblings showed craniosynostosis; this condition has never been reported in patients with MED13L haploinsufficiency syndrome. Dysmorphic features were observed in these patients; however, most of the findings were nonspecific. Further information would be necessary to understand this clinical condition better.


MED13L haploinsufficiency syndrome; craniosynostosis; intellectual disability; loss-of-function; mosaic

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