Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.

  title={Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.},
  author={Anastasia Gazou and Angelika Riess and Ute Grasshoff and Karin Schaeferhoff and Michael Bonin and Anna Jauch and Olaf Riess and Andreas Tzschach},
  journal={American journal of medical genetics. Part A},
  volume={161A 4},
Mutations or deletions of ACSL4 (FACL4, OMIM 300157) are a rare cause of non-syndromic X-linked intellectual disability. We report on a 10-year-old male patient with moderate intellectual disability, sensorineural hearing loss, facial dysmorphism, pyloric stenosis, and intestinal obstruction in whom a de novo Xq22.3-q23 deletion was detected by SNP array analysis. The deleted 1.56 Mb interval harbored ACSL4 and eight neighboring genes (GUCY2F, NXT2, KCNE1L, TMEM164, MIR3978, AMMECR1, SNORD96B… CONTINUE READING