title: Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.
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.
authors.affiliation: Division of Endocrinology, Children's Hospital Boston, Boston, MA, 02115, USA. andrew.dauber@childrens.harvard.edu
authors.forename: Andrew
authors.initials: A
authors.lastname: Dauber
authors.forename: Joan
authors.initials: J
authors.lastname: Stoler
authors.forename: Eliana
authors.initials: E
authors.lastname: Hechter
authors.forename: Jason
authors.initials: J
authors.lastname: Safer
authors.forename: Joel N
authors.initials: JN
authors.lastname: Hirschhorn
mesh_terms: D044842:Cullin Proteins / Q000235:genetics*; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D059472:Exome / Q000235:genetics*; D016368:Frameshift Mutation; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D017422:Sequence Analysis, DNA; D013131:Spine / Q000002:abnormalities; D055815:Young Adult
chemical_list: C506299:CUL7 protein, human; D044842:Cullin Proteins