Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects. Issue 12 (2nd October 2013)

• Record Type: Journal Article
• Authors: Chen, Dong‐Hui; Naydenov, Alipi; Blankman, Jacqueline L.; Mefford, Heather C.; Davis, Marie; Sul, Youngmee; Barloon, A. Samuel; Bonkowski, Emily; Wolff, John; Matsushita, Mark; Smith, Corrine; Cravatt, Benjamin F.; Mackie, Ken; Raskind, Wendy H.; Stella, Nephi; Bird, Thomas D.
• Is Part Of: Human mutation. Volume 34:Issue 12(2013:Dec.)
• Page Start: 1672
• Page End: 1678
• Publication Date: 2013-10-02
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22437
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22437-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We identified two novel mutations in <italic>ABHD12</italic> in a woman with PHARC, a heterozygous p.Lys377* mutation and a 59‐kb deletion that encompasses exon 1 of <italic>ABHD12</italic>, exons 1‐4 of <italic>GINS1</italic>, and the promoters of both genes. In this first functional study of the effect of <italic>ABHD12</italic> mutations, we demonstrated a 50% decrease in <italic>ABHD12</italic> 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. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3wjb4z2h" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>