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

Autor: Lerat, Justine, Cintas, Pascal, Beauvais-Dzugan, Hélène, Magdelaine, Corinne, Sturtz, Franck, Lia, Anne-Sophie
Přispěvatelé: Maintenance Myélinique et Neuropathies Périphériques (MMNP), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Service d'Oto-rhino-laryngologie (ORL) et chirurgie cervico-faciale [CHU Limoges], CHU Limoges, Centre Sclérose Latérale Amyotrophique et maladies, Unité de neurophysiologie clinique [CHU Toulouse], CHU Toulouse [Toulouse], Service de Biochimie et Génétique Moléculaire [CHU Limoges]
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Zdroj: Journal of the Peripheral Nervous System
Journal of the Peripheral Nervous System, Wiley-Blackwell, 2017, 22 (2), pp.77-84. ⟨10.1111/jns.12216⟩
ISSN: 1085-9489
1529-8027
DOI: 10.1111/jns.12216⟩
Popis: International audience; PHARC syndrome (MIM612674) is an autosomal recessive neurodegenerative pathology that leads to demyelinating Polyneuropathy, Hearing loss, cerebellar Ataxia, Retinitis pigmentosa, and early-onset Cataracts (PHARC). These various symptoms can appear at different ages. PHARC syndrome is caused by mutations in ABHD12 (α-β hydrolase domain 12), of which several have been described. We report here a new complex homozygous mutation c.379_385delAACTACTinsGATTCCTTATATACCATTGTAGTCTTACTGCTTTTGGTGAACACA (p.Asn127Aspfs*23). This mutation was detected in a 36-year-old man, who presented neuropathic symptoms from the age of 15, using a next-generation sequencing panel. This result suggests that the involvement of ABHD12 in polyneuropathies is possibly underestimated. We then performed a comparative study of other patients presenting ABHD12 mutations and searched for genotype-phenotype correlations and functional explanations in this heterogeneous population.
Databáze: OpenAIRE
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