De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment
Original research article by M. Hempel et al. (2015).
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Using a test called whole-exome sequencing, the authors five children with CHAMP1 changes that are not present in either parent and is brand new in the child. All five children have intellectual disability, severe speech impairment, delayed development of motor skills, muscle weakness, and atypical facial features such as an open-mouthed appearance, lips that come to a point, and weak muscles in the face. The CHAMP1 gene has an important role in development, and changes to this gene may impact crucial aspects of development, such as brain development. Many of the study participants previously had their genes tested in connection with other diagnoses, but those test results were normal.