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A Somatic GNA11 Mutation is Associated with Extremity Capillary Malformation and Overgrowth
Javier A. Couto, BS1, Ugur M. Ayturk, PhD2, Dennis J. Konczyk, BS1, Jeremy A. Goss, MD1, August Y. Huang, PhD2, Steven Hann, PhD2, Jennifer L. Reeve, MD, PhD3, Marilyn G. Liang, MD4, Joyce Bischoff, PhD5, Matthew L. Warman, MD2,6, Arin K. Greene, MD, MMSc1.
1Department of Plastic & Oral Surgery, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA, 2Department of Orthopedic, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA, 3Department of Dermatology, University of Michigan, Ann Arbor, MI, USA, 4Department of Dermatology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA, 5Department of Surgery, Vascular Biology Program, Boston, MA, USA, 6Howard Hughes Medical Institute, Boston Children’s Hospital, Boston, MA, USA.

PURPOSE: Capillary malformation is a cutaneous vascular anomaly that is present at birth, darkens over time, and can cause overgrowth of tissues beneath the stain. The lesion is caused by a somatic activating mutation in GNAQ. In a previous study we were unable to identify a GNAQ mutation in patients with a capillary malformation involving an overgrown lower extremity. We hypothesized that mutations in GNA11 or GNA14, genes closely related to GNAQ, also may cause capillary malformations.
METHODS: Human capillary malformation tissue obtained from 8 patients that had tested negative for GNAQ mutations were studied. Lesions involved an extremity (n=7) or trunk (n=1). Droplet digital PCR (ddPCR) was used to detect GNA11 or GNA14 mutant cells (p.Arg183) in the specimens. Single molecule molecular inversion probe sequencing (smMIP-seq) was performed to search for other mutations in GNA11. Mutations were validated by sublconing and sequencing amplimers.
RESULTS: We found a somatic GNA11 missense mutation (c.547C>T; p.Arg183Cys) in 3 patients with a diffuse capillary malformation of an extremity. Mutant allelic frequencies ranged from 0.3%-5.0%. GNA11 or GNA14 mutations were not found in 5 affected tissues or in unaffected tissues (white blood cell DNA).
CONCLUSION: GNA11 mutations are associated with extremity capillary malformations causing overgrowth. Pharmacotherapy that affects GNA11 signaling may prevent the progression of capillary malformations.


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