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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
Volume162
Issue1
Pages202-4.e1
Date Published2013 Jan
ISSN1097-6833
KeywordsCullin Proteins, Dwarfism, Exome, Frameshift Mutation, Growth Disorders, Humans, Male, Muscle Hypotonia, Phenotype, Sequence Analysis, DNA, Spine, Young Adult
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.

URLhttp://linkinghub.elsevier.com/retrieve/pii/S0022-3476(12)00880-3
DOI10.1016/j.jpeds.2012.07.055
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/22974575?dopt=Abstract

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