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J Pediatr DOI:10.1016/j.jpeds.2012.07.055

Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.

Publication TypeJournal Article
Year of Publication2013
AuthorsDauber, A, Stoler, J, Hechter, E, Safer, J, Hirschhorn, JN
JournalJ Pediatr
Date Published2013 Jan
KeywordsCullin Proteins, Dwarfism, Exome, Frameshift Mutation, Growth Disorders, Humans, Male, Muscle Hypotonia, Phenotype, Sequence Analysis, DNA, Spine, Young Adult

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.


Alternate JournalJ. Pediatr.
PubMed ID22974575
PubMed Central IDPMC3524393
Grant ListK12 HD052896 / HD / NICHD NIH HHS / United States
K23 HD073351 / HD / NICHD NIH HHS / United States
5K12HD052896 / HD / NICHD NIH HHS / United States
UL1 RR025758 / RR / NCRR NIH HHS / United States
UL1 RR 025758 / RR / NCRR NIH HHS / United States