Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6200329 | Ophthalmology | 2014 | 8 Pages |
Abstract
Null mutations in the ABHD12 gene lead to PHARC syndrome, a neurodegenerative disease including polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract. Our study allowed us to report 5 new mutations in ABHD12. This is the first time missense mutations have been described for this gene. Furthermore, these findings are expanding the spectrum of phenotypes associated with ABHD12 mutations ranging from PHARC syndrome to a nonsyndromic form of retinal degeneration.
Keywords
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Authors
Koji M. PhD, MD, Almudena PhD, Ramon A.C. MD, Marta PhD, Raquel MSc, Esther MSc, MarÃa Isabel MD, Fiona MD, PhD, Lies H. PhD, Wendy A. MD, PhD, Pedro J. MD, Javier MD, Silvio Alessandro PhD, B. Jeroen MD, PhD, Bart P.C. MD, PhD, Carlos MD,