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

作者：Yamamoto Toshiyuki^*; Shimojima Keiko; Ondo Yumiko; Shimakawa Shuichi; Okamoto Nobuhiko

来源：American Journal of Medical Genetics, Part A, 2017, 173(5): 1264-1269.

DOI：10.1002/ajmg.a.38168

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

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.

• 出版日期2017-5
• 单位河北医科大学