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Case Reports
. 2013 Jan;162(1):202-4.e1.
doi: 10.1016/j.jpeds.2012.07.055. Epub 2012 Sep 10.

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

Andrew Dauber  1 , Joan Stoler, Eliana Hechter, Jason Safer, Joel N Hirschhorn
Affiliations
Case Reports

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

Andrew Dauber et al. J Pediatr. 2013 Jan.

Erratum in

  • J Pediatr. 2013 Jan;162(1):217

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.

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Conflict of interest statement

The authors declare no conflicts of interest

Figures

Figure
Figure
Subject at 19 years of age. Many of the typical facial features of 3M syndrome, such as triangular face, prominent mouth and lips, pointed chin, and mid-face hypoplasia, are more prominent in younger children making the syndrome more difficult to diagnose in adulthood.
See this image and copyright information in PMC

Comment in

References

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Publication types

Supplementary concepts