Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features.

@article{Almuriekhi2015LossofFunctionMI,
  title={Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features.},
  author={Mariam Almuriekhi and Takafumi Shintani and Somayyeh Fahiminiya and Akihiro Fujikawa and Kazuya Kuboyama and Yasushi Takeuchi and Zafar Nawaz and Javad Nadaf and Hussein A. Kamel and Abu Khadija Kitam and Zaineddin Samiha and Laila Mahmoud and Tawfeg I. M. Ben-Omran and Jacek Majewski and Masaharu Noda},
  journal={Cell reports},
  year={2015}
}
Sotos syndrome, characterized by intellectual disability and characteristic facial features, is caused by haploinsufficiency in the NSD1 gene. We conducted an etiological study on two siblings with Sotos features without mutations in NSD1 and detected a homozygous frameshift mutation in the APC2 gene by whole-exome sequencing, which resulted in the loss of… CONTINUE READING