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Dong-Hui Chen, Alipi Naydenov, Jacqueline L. Blankman, Heather C. Mefford, Marie Davis, Youngmee Sul, A. Samuel Barloon, Emily Bonkowski, John Wolff, Mark Matsushita, Corrine Smith, Benjamin F. Cravatt, Ken Mackie, Wendy H. Raskind, Nephi Stella and Thomas D. Bird Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects Human Mutation 34

Article first published online: 2 OCT 2013 | DOI: 10.1002/humu.22437

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We identified two novel mutations in ABHD12 in a woman with PHARC, a heterozygous p.Lys377* mutation and a 59-kb deletion that encompasses exon 1 of ABHD12, exons 1-4 of GINS1, and the promoters of both genes. In this first functional study of the effect of ABHD12 mutations, we demonstrated a 50% decrease in ABHD12 RNA expression and absence of ABHD12 hydrolase activity. Haploinsufficiency for GINS may play a role in the short stature of the patient and her mother.

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