Ontology highlight
ABSTRACT:
SUBMITTER: Chen DH
PROVIDER: S-EPMC3855015 | biostudies-literature | 2013 Dec
REPOSITORIES: biostudies-literature
Chen Dong-Hui DH Naydenov Alipi A Blankman Jacqueline L JL Mefford Heather C HC Davis Marie M Sul Youngmee Y Barloon A Samuel AS Bonkowski Emily E Wolff John J Matsushita Mark M Smith Corrine C Cravatt Benjamin F BF Mackie Ken K Raskind Wendy H WH Stella Nephi N Bird Thomas D TD
Human mutation 20131002 12
PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts) is a recently described autosomal-recessive neurodegenerative disease caused by mutations in the α-β-hydrolase domain-containing 12 gene (ABHD12). Only five homozygous ABHD12 mutations have been reported and the pathogenesis of PHARC remains unclear. We evaluated a woman who manifested short stature as well as the typical features of PHARC. Sequence analysis of ABHD12 revealed a novel heterozygous c.1129A>T (p.Lys3 ...[more]