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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.

Author information

1
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
2
Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
3
Department of Pediatrics, Osaka Medical College, Osaka, Japan.
4
Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.

Abstract

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.

KEYWORDS:

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

PMID:
28371282
DOI:
10.1002/ajmg.a.38168
[Indexed for MEDLINE]

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