A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature-Reference-Cited by-同舟云学术

A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature

Published:2017-06 Issue:2 Volume:22 Page:77-84
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Lerat Justine¹²^ORCID,Cintas Pascal³,Beauvais-Dzugan Hélène¹⁴,Magdelaine Corinne¹⁴,Sturtz Franck¹⁴,Lia Anne-Sophie¹⁴

Affiliation:

1. EA6309 - Neuropathies Périphériques et Maintenance Myélinique; Université de Limoges; Limoges France

2. Service Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale; CHU Dupuytren; Limoges France

3. Explorations Neurophysiologiques, Centre SLA, Centre de Référence de Pathologie Neuromusculaire, CHU Toulouse, Hôpital Pierre-Paul Riquet; Toulouse France

4. Laboratoire de Biochimie et Génétique Moléculaire; CHU Dupuytren; Limoges France

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jns.12216/fullpdf

Reference12 articles.

1. A comprehensive profile of brain enzymes that hydrolyze the endocannabinoid 2-arachidonoylglycerol;Blankman;Chem Biol,2007

2. ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC;Blankman;Proc Natl Acad Sci USA,2013

3. Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects;Chen;Hum Mutat,2013

4. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3;Eisenberger;Orphanet J Rare Dis,2012

5. Mutations in ABHD12 cause the neurodegenerative disease PHARC: an inborn error of endocannabinoid metabolism;Fiskerstrand;Am J Hum Genet,2010

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1. Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants;BMC Medical Genomics;2024-08-09

2. Suppressing phagocyte activation by overexpressing the phosphatidylserine lipase ABHD12 preserves sarmopathic nerves;2024-06-25

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