Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 22974575.
- Also identified by DOI 10.1016/j.jpeds.2012.07.055 and PMC identifier 3524393.
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Abstract
We present the case of a 19-year-old man with a growth disorder, which was undefined, despite extensive evaluation. Whole exome sequencing demonstrated a novel homozygous frameshift mutation in CUL7, one of the causative genes of 3-M syndrome. We discuss the utility of exome sequencing in diagnosing rare disorders.
Medical subject headings
- Cullin Proteins
- Dwarfism
- Exome
- Frameshift Mutation
- Growth Disorders
- Muscle Hypotonia
- Sequence Analysis, DNA